IthaGenes

Loading... Please wait!

Quick filtering

Showing all entries assigned as Thalassaemia (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype
301	-α4.2	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
302	-α2.4	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
306	-α7.9	N/A	N/A	α2	Causative	α-thalassaemia, Haemolytic anaemia
307	-α18 (18 kb deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
316	-(α)5.2	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
322	--CI (28+ kb deletion.)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
324	--115	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
326	--YEM	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
329	--KOL	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
330	--11.1 (11.1 kb deletion)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
331	--OH	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
332	(αα)RA	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
333	(αα)TI	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
334	(αα)IJ	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
335	(αα)CMO	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
336	(αα)TAT	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
337	(αα)MB	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
338	(αα)IC	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
339	(αα)IdF	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2230	-α3.7 (type II)	N/A	N/A	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2231	-α3.7 (type III)	N/A	N/A	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
2233	-ζ	N/A	N/A	ζ	Causative	α-thalassaemia, Haemolytic anaemia
2234	-α16.6	N/A	N/A	ζ, α2	Causative	α-thalassaemia, Haemolytic anaemia
2235	α-αΔ970 (970 bp deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia
2236	--DUTCH I	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2237	--AW	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2238	--BGS	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2239	--CAMPANIA	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2240	--FIL-2 (27.9 deletion)	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2241	--ED	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2242	--GP	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2243	(αα)AS	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2244	(αα)JM	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2245	(αα)MM	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2246	(αα)L	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2247	(αα)SN	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2248	(αα)Sco	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2249	(αα)ZW	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
2250	(αα)RSR	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2251	(αα)MCu	N/A	N/A	HS40, ζ	Causative	α-thalassaemia, Haemolytic anaemia
2252	--BR	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2253	--ZW	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2254	--JY	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2255	--LC	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2256	--VR	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2257	--JT	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2258	--AB	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2259	--GZ	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2260	Dutch II	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2261	--MK	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2262	--80	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2263	α-ZF	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2264	--Brazil	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2265	--PV	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2266	--HN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2267	--FT	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2268	--BA	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2269	--TN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2270	--BO	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2271	--IM	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2272	--LIN	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2273	--GS	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2555	α12 (HBA2 gene conversion)	N/A	N/A	α2, α1	Causative	α-thalassaemia
2562	(αα)HS40del (hg19 chr16:g.(?_103625)_(163701_193676)del)	N/A	chr16:g.(?_103,625)_163,701_193,676)del	HS40	Causative	α-thalassaemia
2567	BS duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
2568	FD duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
2570	Sardinian duplication	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3021	--JAL	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia
3022	--LOD	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3067	--MEX1	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3068	--MEX2	N/A	N/A	HS40, ζ, α2, α1	Causative	α-thalassaemia
3070	αααα282	N/A	N/A	HS40, ζ, α2, α1, NPRL3	Causative	β-thalassaemia
3071	--235	N/A	N/A	HS40, ζ, α2, α1, NPRL3	Causative	α-thalassaemia, Haemolytic anaemia
3074	(αα)JX	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
3076	αααα391	N/A	N/A	HS40, ζ, α2, α1	Causative	β-thalassaemia
3142	-α6.3	N/A	NG_000006.1:g.31022_37366del6344	α2	Causative	α-thalassaemia, Haemolytic anaemia
3214	44.6 kb deletion	N/A	NC_000016.9:g.194214_238840del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3215	--Braz	N/A	N/A	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3244	−KOZANI	N/A	N/A	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3255	--MEX3	N/A	NC_000016.10:g.151479_182582del	ζ, α2, α1, HBM	Causative	α-thalassaemia
3258	--NFLD	N/A	NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA	α2, α1	Causative	α-thalassaemia
3265	α-globin cluster triplication	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	β-thalassaemia
3273	--VS	N/A	N/A	HS40, ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia
3274	--CBR	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia
3275	(αα)ALT	N/A	N/A	HS40	Causative	α-thalassaemia
3283	--JS	N/A	N/A	α2, α1	Causative	α-thalassaemia
3284	--PG	N/A	NG_000006.1:g.93628_542759del450131	HS40, ζ, α2, α1, NPRL3, HBM, AXIN1	Causative	α-thalassaemia, Haemolytic anaemia
3292	15 kb deletion	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3293	97 kb deletion	N/A	N/A	HS40	Causative	α-thalassaemia, Haemolytic anaemia
3294	22 kb deletion	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3295	225 kb deletion	N/A	N/A	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3296	--GB	N/A	N/A	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3327	--GX	N/A	N/A	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia
3407	(αα)JS	N/A	NC_000016.9:g.96621_176318del	HS40, NPRL3	Causative	α-thalassaemia, Haemolytic anaemia
3408	--60.2	N/A	NC_000016.9:g.197577_257872del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia
3440	-αMAL3.5	N/A	NG_000006.1:g.32745_36301del	α2	Causative	α-thalassaemia, Haemolytic anaemia
327	--MC	N/A	NG_000006.1:g.164_43364del43201	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2554	-α28.5	N/A	NG_000006.1g.7065_35627del28563	ζ, α2	Causative	α-thalassaemia
323	--CAL	N/A	NG_000006.1:g.8464_40664del32201	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3020	--DANE	N/A	NG_000006.1: g.8800_40007del31208	ζ, α2, α1	Causative	α-thalassaemia
2232	-α27.6	N/A	NG_000006.1:g.9079_36718del27640	ζ, α2	Causative	α-thalassaemia, Haemolytic anaemia
310	--THAI	N/A	NG_000006.1:g.10664_44164del33501	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
313	--MED II	N/A	NG_000006.1:g.10864_40864del30001	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
311	--FIL	N/A	NG_000006.1:g.11684_43534	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
325	--RT	N/A	NG_000006.1:g.12264_49164del36901	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
321	--CL	N/A	NG_000006.1:g.13314_124664del111351	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
2475	21.9 kb deletion with 29 bp insertion (Qinzhou type deletion)	N/A	NG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT]	ζ, α2	Causative	α-thalassaemia
314	-(α)20.5	N/A	NG_000006.1:g.15164_37864del22701	ζ, α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
320	--BRIT	N/A	NG_000006.1:g.16364_45664del29301	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
319	--MA	N/A	NG_000006.1:g.18964_39864del20901	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
315	--SA	N/A	NG_000006.1:g.19464_43064del23601	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
312	--MED I	N/A	NG_000006.1:g.24664_41064del16401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
309	--SEA	N/A	NG_000006.1:g.26264_45564del19301	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
305	-α5.3	N/A	NG_000006.1:g.28684_33930del5246	α2	Causative	α-thalassaemia, Haemolytic anaemia
318	--SPAN	N/A	NG_000006.1:g.30864_41414del10551	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
328	--CANT	N/A	NG_000006.1:g.30864_41414del10551	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3018	--NOR	N/A	NG_000006.1:g.31541_44948del13408	α2, α1	Causative	α-thalassaemia
3360	9.7 kb deletion	N/A	NG_000006.1:g.32709_42418del	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
317	--GEO	N/A	NG_000006.1:g.32864_42264del9401	α2, α1	Causative	α-thalassaemia, Haemolytic anaemia
3268	811 bp deletion	N/A	NG_000006.1:g.32945_33755	α2	Causative	α-thalassaemia
2988	-54 G>A	N/A	HBA2:c.-91G>A	α2	Causative	α-thalassaemia
2967	-22 C>T	N/A	HBA2:c.-59C>T	α2	Causative	α-thalassaemia
346	Init CD ACCATG>--CATG	N/A	HBA2:c.-3delAC	α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
3051	Init CD ACCATG>-CCATG	N/A	HBA2:c.-3delA	α2	Causative	α-thalassaemia
344	Init CD ATG>-TG	N/A	HBA2:c.1delA	α2	Causative	α-thalassaemia, Haemolytic anaemia
345	Init CD ATG>GTG	N/A	HBA2:c.1A>G	α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
3050	Init CD ATG>TTG [Met>Leu]	N/A	HBA2:c.1A>T	α2	Causative	α-thalassaemia
342	Init CD ATG>ACG [Met>Thr]	N/A	HBA2:c.2T>C	α2	Causative	α-thalassaemia, Haemolytic anaemia
343	Init CD ATG>A-G	N/A	HBA2:c.2delT	α2	Causative	α-thalassaemia, Haemolytic anaemia
2460	Init CD ATG>AGG [Met>Arg]	N/A	HBA2:c.2T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
2469	CD 7 AAG>TAG	N/A	HBA2:c.22A>T	α2	Causative	α-thalassaemia
2518	CD 14 TGG>TGA	N/A	HBA2:c.45G>A	α2	Causative	α-thalassaemia
350	CD 18 GTC>-TC	N/A	HBA2:c.56delG	α2	Causative	α-thalassaemia, Haemolytic anaemia
2465	CD 19 GCG>GC-	N/A	HBA2:c.60delG	α2	Causative	α-thalassaemia
2207	CD 21/22 +T	N/A	HBA2:c.66_67insT	α2	Causative	α-thalassaemia, Haemolytic anaemia
352	CD 22 GGC>GGT new donor consensus	N/A	HBA2:c.69C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
353	CD 22 -C	N/A	HBA2:c.69delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
354	CD 23 GAG>TAG	N/A	HBA2:c.70G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
2208	CD 24 TAT>TAG	N/A	HBA2:c.75T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
2488	CD 24 TAT>TAA	N/A	HBA2:c.75T>A	α2	Causative	α-thalassaemia
357	CD 30 -GAG [-Glu]	N/A	HBA2:c.91_93delGAG	α2	Causative	α-thalassaemia, Haemolytic anaemia
2210	CD 31 AGG>CGG [Arg>Arg]	N/A	HBA2:c.94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia
366	CD 31 AGG>AAG [Arg>Lys]	N/A	HBA2:c.95G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
2483	IVS I-1 G>T	N/A	HBA2:c.95+1G>T	α2	Causative	α-thalassaemia
359	IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor (α-5nt)	N/A	HBA2:c.95+2_95+6delTGAGG	α2	Causative	α-thalassaemia, Haemolytic anaemia
360	IVS I-5 G>A	N/A	HBA2:c.95+5 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
362	IVS I-55 G>A	N/A	HBA2:c.95+55 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
363	IVS I-116 GCAGGA>GCGGGA acceptor	N/A	HBA2:c.96-2A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
2957	IVS I-117 G>A	N/A	HBA2:c.96-1G>A	α2	Causative	α-thalassaemia
2211	CD 37 -C	N/A	HBA2:c.112delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
3052	CD 37 CCC>CC-	N/A	HBA2:c.114delC	α2	Causative	α-thalassaemia
2493	CD 40 AAG>AA-	N/A	HBA2:c.123delG	α2	Causative	α-thalassaemia, Haemolytic anaemia
2213	CD 43 TTC>-TC	N/A	HBA2:c.130delT	α2	Causative	α-thalassaemia, Haemolytic anaemia
2214	CD 43 TTC>T-C	N/A	HBA2:c.131delT	α2	Causative	α-thalassaemia, Haemolytic anaemia
2215	CD 43/44 -C	N/A	HBA2:c.132delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
3405	CD 47-53 (-24bp): (-GACCTGAGCCACGGCTCTGC)	N/A	HBA2:c.142_161delGACCTGAGCCACGGCTCTGC	α2	Causative	α-thalassaemia
2216	CD 47 -A	N/A	HBA2:c.143delA	α2	Causative	α-thalassaemia, Haemolytic anaemia
3053	CD 47/48 (-4bp): (-ACCT)	N/A	HBA2:c.143_146delACCT	α2	Causative	α-thalassaemia
374	CD 49 -GC	N/A	HBA2:c.149_150delGC	α2	Causative	α-thalassaemia, Haemolytic anaemia
2217	CD 51/52 +G	N/A	HBA2:c.156_157insG	α2	Causative	α-thalassaemia, Haemolytic anaemia
376	CD 54 (CAG>TAG)	N/A	HBA2:c.163C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
3079	CD 55 +T	N/A	HBA2:c.168dup	α2	Causative	α-thalassaemia
3054	CD 56 AAG>--G	N/A	HBA2:c.169_170delAA	α2	Causative	α-thalassaemia
3286	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA2:c.184A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
2218	CD 63-76 (-42 bp)	N/A	HBA2:c.190_231del	α2	Causative	α-thalassaemia, Haemolytic anaemia
2576	CD 68 AAC>A-C	N/A	HBA2c.206delA	α2	Causative	α-thalassaemia
3055	CD 73/74 (-4bp): (-GTGG)	N/A	HBA2:c.220_223delGTGG	α2	Causative	α-thalassaemia
388	CD 90 AAG>TAG	N/A	HBA2:c.271A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
300	-α3.7 (type I) (-α3.7)	N/A	NG_000006.1:g.34164_37967del3804	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
3080	CD 94 (+21 bp duplication)	Hb SKMC	HBA2:c.283_300+3dup	α2	Causative	α-thalassaemia, Haemolytic anaemia
391	IVS II-2 GT>GA donor	N/A	HBA2:c.300+2T>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
2430	203 bp deletion	N/A	NG_000006.1:g.34305_34507del203	α2	Causative	α-thalassaemia
392	IVS II-142 G>A	N/A	HBA2:c.301-1G>A	α2	Causative	α-thalassaemia
398	CD 108 -C	N/A	HBA1:c.327delC	α1	Causative	α-thalassaemia, Haemolytic anaemia
402	CD 112/113 -C	N/A	HBA2:c.339delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
403	CD 113/114 -C	N/A	HBA2:c.342delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
3078	CD 113 +CC	N/A	HBA2:c.342_345insCC	α2	Causative	α-thalassaemia, Haemolytic anaemia
3140	CD 114 CCC>CC-	N/A	HBA2:c.345delC	α2	Causative	α-thalassaemia, Haemolytic anaemia
405	CD 116 GAG>TAG	N/A	HBA2:c.349G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia
2221	CD 115 -GAGTTCACCCC [166 aa]	N/A	HBA2:c.349_359delGAGTTCACCCC	α2	Causative	α-thalassaemia, Haemolytic anaemia
410	CD 125 CTG>CAG [Leu>Gln]	Hb Weste-Einde	HBA2:c.377T>A	α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia
3305	CD 126 GCG>-CG	N/A	HBA2:c.379delG	α2	Causative	α-thalassaemia
2519	CD 127 AAG>TAG	N/A	HBA2:c.382A>T	α2	Causative	α-thalassaemia
2226	3' UTR +46 C>A	N/A	HBA2:c.*46C>A	α2	Causative	α-thalassaemia, Haemolytic anaemia
428	3' UTR -16 bp (giving rise to CATAAA)	N/A	HBA2:c.74_89delCCTTCCTGGTCTTTGA	α2	Causative	α-thalassaemia, Haemolytic anaemia
425	Poly(A) AATAAA>AATGAA (αPolyA2)	N/A	HBA2:c.*92A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
426	Poly(A) AATAAA>AATA--	N/A	HBA2:c.93_94delAA	α2	Causative	α-thalassaemia, Haemolytic anaemia
424	Poly(A) AATAAA>AATAAG (αPolyA1 , αT-Saudi)	N/A	HBA2:c.*94A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia
427	Poly(A) AATAAA>AATAAC	N/A	HBA2:c.*94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia
303	-α2.7	N/A	NG_000006.1:g.36664_39364del2701	α1	Causative	α-thalassaemia, Haemolytic anaemia
304	-α3.5	N/A	NG_000006.1:g.37464_40964del3501	α1	Causative	α-thalassaemia, Haemolytic anaemia
340	CAP +22 T>C	N/A	HBA1:c.-16T>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
2203	CAP +29 (G>C)	N/A	HBA1:c.-9G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
341	Init CD ATG>GTG	N/A	HBA1:c.1A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
3147	Init CD ATG>AAG [Met>Lys]	N/A	HBA1:c.2T>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3250	Init CD ATG>A-G	N/A	HBA1:c.2delT	α1	Causative	α-thalassaemia
349	CD 14 TGG>TAG	N/A	HBA1:c.44A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
3395	CD 16 AAG>TAG [Lys>STOP]	N/A	HBA1:c.49A>T	α1	Causative	α-thalassaemia
3266	CD 22 GGC>GGT [Gly>Gly]	N/A	HBA1:c.69C>T	α1	Causative	α-thalassaemia, Haemolytic anaemia
3267	CD 23 GAG>TAG	N/A	HBA1:c.70G>T	α1	Causative	α-thalassaemia, Haemolytic anaemia
3032	CD 28 GCC>TCC [Ala>Ser]	N/A	HBA1:c.85G>T	α1	Causative	α-thalassaemia
3030	CD 30 GAG>TAG	N/A	HBA1:c.91G>T	α1	Causative	α-thalassaemia
365	CD 31 AGG>--G	N/A	HBA1:c.92_93delAG	α1	Causative	α-thalassaemia, Haemolytic anaemia
2417	CD 31 AGG>--G	N/A	HBA1:c.94_95delAG \| HBA2:c.94_95delAG	α3.7 hybrid	Causative	α-thalassaemia
358	IVS I-1 AGGT>AGAT donor	N/A	HBA1:c.95+1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3049	IVS I-1 AGGT>AGCT donor	N/A	HBA1:c.95+1G>C	α1	Causative	α-thalassaemia
2204	IVS I-4 A>G	N/A	HBA1:c.95+4A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
361	IVS I-5 G>A	N/A	HBA1:c.95+5 G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3431	IVS I-38 C>T	N/A	HBA1:c.95+38C>T	α1	Causative	α-thalassaemia
2212	IVS I-45 G>C	N/A	HBA1:c.95+45G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia
2451	IVS I-116 A>G	N/A	HBA1:c.96-2A>G	α1	Causative	α-thalassaemia
364	IVS I-117 GCAGGA>GCAAGA acceptor	N/A	HBA1:c.96-1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
3251	IVS I-117 GCAGGA>GCACGA acceptor	N/A	HBA1:c.96-1G>C	α1	Causative	α-thalassaemia
372	CD 39-41 (-9 bp, + 8 bp duplication)	N/A	HBA1:c.108_146del9ins8	α2	Causative	α-thalassaemia, Haemolytic anaemia
3403	CD 39 +A	N/A	HBA2:c.118_119insA	α2	Causative	α-thalassaemia
2468	CD 44 +C	N/A	HBA1:c.134_135insC	α1	Causative	α-thalassaemia
375	CD 51-55 (-13 bp deletion)	N/A	HBA1:c.155_167delGCTCTGCCCAGGT	α1	Causative	α-thalassaemia, Haemolytic anaemia
3334	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA1:c.184A>T	α1	Causative	α-thalassaemia
2429	CD 62 GTG>GCG [Val>Ala]	N/A	HBA1:c.188T>C	α1	Causative	α-thalassaemia
2347	CD 62 -G	N/A	HBA1:c.189delG	α1	Causative	α-thalassaemia, Haemolytic anaemia
3373	CD 67 ACC>-CC	N/A	HBA1:c.202delA	α1	Causative	α-thalassaemia
385	CD 74/75 -GAC [- Asp]	N/A	HBA1:c.212_214delGAC	α1	Causative	α-thalassaemia, Haemolytic anaemia
3326	CD 73 GTG>G-G	N/A	HBA1:c.221delT	α1	Causative	α-thalassaemia
386	CD 78 -C	N/A	HBA1:c.237delC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2219	CD 81 -T	N/A	HBA2:c.244delT	α2	Causative	α-thalassaemia, Haemolytic anaemia
387	CD 82/83/84 del 5bp ins	N/A	HBA1:c.247_255delGCCCTGAGC	α2	Causative	α-thalassaemia, Haemolytic anaemia
390	CD 93-99 (+21 bp)	N/A	HBA1:c.280_300ins21	α1	Causative	α-thalassaemia, Haemolytic anaemia
2467	CD 99 AAG>TAG	N/A	HBA1:c.298A>T	α1	Causative	α-thalassaemia
3031	IVS II-1 G>A	N/A	HBA1:c.300+1G>A	α1	Causative	α-thalassaemia
2222	IVS II-147 C>G	N/A	HBA1:c.301-3C>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
393	IVS II-148 A>G consensus	N/A	HBA1:c.301-2A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia
2224	CD 110-114 (-13 bp)	N/A	HBA1:c.333_345delCGCCCACCTCCCC	α1	Causative	α-thalassaemia, Haemolytic anaemia
2225	Poly A (G>A) AATAAAG>AATAAAA	N/A	HBA1:c.*96G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia
78	CD 18 (+A)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
124	IVS I [3' end] (+22bp)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
284	468 bp deletion	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
285	Black (532 bp deletion)	N/A	HBB:c.-504_28del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
290	Thai (3485 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
291	Czech (4237 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
292	Turk (~7.6 kb deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
293	Cape Verdean	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
294	Asian Indian (10329 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
295	Australian (Anglo Saxon) (12023 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
299	Italian (~67 kb deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
1400		Hb Lepore-Leiden	N/A	δ, β	Causative	δβ-thalassaemia
1511	East European (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1512	Laotian (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1513	Thai (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1514	Macedonian/Turkish (δβ)0 (Turkish type 2 (δβ)0 \| Turkish Inv/Del (δβ)0)	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1515	Turkish (δβ)0 (Turkish type 3 (δβ)0)	N/A	N/A	δ, β, pseudo β	Causative	δβ-thalassaemia
1516	Leiden 7.4 kb (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia
1517	Thai 11.3 (δβ)0	N/A	N/A	δ, β	Causative	δβ-thalassaemia, Hb F levels
1518	Japanese 2 (δβ)0	N/A	N/A	δ, β, pseudo β	Causative	δβ-thalassaemia
1519	Indian (Aγδβ)0 (inv) (Asian-Indian Inv/Del Gγ(Aγδβ)0)	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1521	Cantonese (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1522	Malaysian-1 (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1525	Belgian (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1528	Yunnanese (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1530	Italian (Aγδβ)0	N/A	NC_000011.9:g.(5215685_5215688)_(5270743_5270746)del55059	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1531	Canadian (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1532	Leiden 69.5	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1533	49.3 kb Gγ(Aγδβ)0 Asian del	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1534	Anglo-Saxon (εγδβ)0	N/A	NC_000011.8:g.5204501_5300223del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1535	Irish (εγδβ)0	N/A	NC_000011.8:g.5110112_5312961del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1536	Canadian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1537	Scottish - Irish	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1538	English I (εγδβ)0	N/A	N/A	βLCR, ε, Gγ	Causative	εγδβ-thalassaemia
1539	Mexican (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1540	Hispanic (εγδβ)0	N/A	NC_000011.8:g.5257379_5297161del	βLCR	Causative	εγδβ-thalassaemia
1541	Croatian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1542	Dutch I (εγδβ)0	N/A	NC_000011.8:g.5207238_5307069del99611	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia
1543	English II	N/A	N/A	βLCR, ε	Causative	εγδβ-thalassaemia
1544	English III	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1545	English IV	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1546	Chilean	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1547	Dutch II	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1	Causative	εγδβ-thalassaemia
1548	Dutch III	N/A	N/A	βLCR, ε, Aγ, Gγ	Causative	εγδβ-thalassaemia
1549	Dutch IV	N/A	N/A	βLCR, ε, Aγ, Gγ, OR51B5, OR51B6	Causative	εγδβ-thalassaemia
1550	Dutch V	N/A	N/A	βLCR	Causative	εγδβ-thalassaemia
1551	Dutch VI	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1552	Japanese	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1553	French	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2123	7719 bp deletion	N/A	NG_000007.3:g.71550_79270del7719	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2125	Afghan (909 bp deletion)	N/A	HBB:c.-528_251del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2126	South East Asian (SEA) deletion (27 kb deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2157	Indian (4056 bp deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2158	Pakistani I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2159	(εγδβ)0 with α triplication	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2161	French (εγδβ)0 insertion/deletion	N/A	N/A	βLCR	Causative	εγδβ-thalassaemia
2163	Norwegian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia
2164	Tennessean (εγδβ)0	N/A	N/A	βLCR	Causative	εγδβ-thalassaemia
2165	Puerto Rican (εγδβ)0	N/A	N/A	βLCR	Causative	εγδβ-thalassaemia
2167	Asian Indian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2418	Swiss (εγδβ)0	N/A	NC_000011.9:g.(4023964_4024014)_(6928943_6928993)del2904980	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia
2419	Senegalese δ(0)β(+)	N/A	NG_000007.3:g.(63154_63209)_(70570_70625)del7417	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia
2548	Inv-Del English V	N/A	NC_000011.10:g.5215690_5274684invdel5215690_5215772del5274684_5397195	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2551	Austrian I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
3073	Italian (εγδβ)0 deletion	N/A	NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC]	ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
3270	Chinese I (εγδβ)0	N/A	NC_000011.9:g.5057966_5291566del	ε, Aγ, Gγ, δ, β, pseudo β, OR51V1	Causative	εγδβ-thalassaemia
3340	Brazilian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2	Causative	εγδβ-thalassaemia
3393	3.5 kb deletion	N/A	NC_000011.10:g.5224302-5227791del3490bp	β	Causative	β-thalassaemia, Haemolytic anaemia
3394	223 kb deletion	N/A	NC_000011.9:g.5031238_5254163del	δ, β	Causative	β-thalassaemia
2566	Caribbean	N/A	NG_000007.3:g.8510_13369del	βLCR	Causative	β-thalassaemia
1524	Turkish (Aγδβ)0	N/A	NG_000007.3:g.45410_81665del36256	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1504	SE Asian, Thai (Aγδβ)0 (HPFH-6)	N/A	NG_000007.3:g.45595_124872del79278	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia, Hb F levels
1520	German (Aγδβ)0	N/A	NG_000007.3:g.(45922_46319)_(98640_99640)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1523	Malaysian-2 (Aγδβ)0	N/A	NG_000007.3:g.(47376_47553)_(89149_90149)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1527	Chinese (Aγδβ)0	N/A	NG_000007.3:g.48795_127698del78904	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia
1526	Black (Aγδβ)0	N/A	NG_000007.3:g.49040_84889del35850	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia
1506	Indian (δβ)0 (32.6 kb GγΑγ(δβ)0 Indian del)	N/A	NG_000007.3:g.50509_83170del32662	δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia
1508	Japanese (δβ)0	N/A	NG_000007.3:g.51483_165148del113666	δ, β, pseudo β	Causative	δβ-thalassaemia
110	IVS I-5 (G>A) + Corfu deletion (7.2 kb Corfu δβ thalassaemia, Corfu (δβ)0)	N/A	NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A	δ, β	Causative	δβ-thalassaemia
1497	Corfu (δ)0 (7.2kb Corfu deletion)	N/A	NG_000007.3:g.57237_64443del7207	δ	Causative	δ-thalassaemia
1509	Spanish (δβ)0	N/A	NG_000007.3:g.60375_153285del92911	δ, β	Causative	δβ-thalassaemia
1510	Black (δβ)0	N/A	NG_000007.3:g.(60530_60730)_(72351_72551)del11822	δ, β	Causative	δβ-thalassaemia
3223	CAP +48 (A>T)	N/A	HBD:c.-6A>T	δ	Causative	δ-thalassaemia
2202	CAP +53 (G>A)	N/A	HBD:c.-1G>A	δ	Causative	δ-thalassaemia
1321	-80 (G>A)	N/A	HBD:c.-130G>A	δ	Causative	δ-thalassaemia
1322	-77 (T>C)	N/A	HBD:c.-127T>C	δ	Causative	δ-thalassaemia
1323	-76 (A>T)	N/A	HBD:c.-126A>T	δ	Causative	δ-thalassaemia
1324	-68 (C>T)	N/A	HBD:c.-118C>T	δ	Causative	δ-thalassaemia
1325	-65 (A>G)	N/A	HBD:c.-115A>G	δ	Causative	δ-thalassaemia
1326	-55 (T>C)	N/A	HBD:c.-105T>C	δ	Causative	δ-thalassaemia
1327	-36 (C>A)	N/A	HBD:c.-86C>A	δ	Causative	δ-thalassaemia
1328	-31 (A>G)	N/A	HBD:c.-81A>G	δ	Causative	δ-thalassaemia
1329	-30 T>C	N/A	HBD:c.-80T>C	δ	Causative	δ-thalassaemia
1330	Init CD ATG>ATA [Met>Ile]	N/A	HBD:c.3G>A	δ	Causative	δ-thalassaemia
3307	N/A	Hb Lepore Rochester-MN	NG_000007.3:g.[63191_70603dup;63291_70703del]	δ, β	Causative	δβ-thalassaemia
3231	CD 7 (-3bp): (-GAG)	N/A	HBD:c.22_24delGAG	δ	Causative	δ-thalassaemia
3336	CD 7 GAG>TAG [Glu>STOP]	N/A	HBD:c.22G>T	δ	Causative	δ-thalassaemia
3232	CD 10 GCT>-CT	N/A	HBD:c.31delG	δ	Causative	δ-thalassaemia
1333	CD 30 (AGG>ACG)	N/A	HBD:c.92G>C	δ	Causative	δ-thalassaemia
1334	IVS I-2 (T>C)	N/A	HBD:c.92+2T>C	δ	Causative	δ-thalassaemia
2090	IVS I-5 G>T	N/A	HBD:c.92+5G>T	δ	Causative	δ-thalassaemia
1397		Hb Lepore-Hollandia	NG_000007.3:g.63290_70702del	δ, β	Causative	δβ-thalassaemia
2563	IVS I-1 (27 bp insertion)	N/A	HBD:c.92+83_84ins27	δ	Causative	δ-thalassaemia
3233	IVS I 3' AG>-C	N/A	HBD:c.93-2delA	δ	Causative	δ-thalassaemia
1335	IVS I 3' AG>AC	N/A	HBD:c.93-1G>C	δ	Causative	δ-thalassaemia
1336	CD 37 (TGG>TAG)	N/A	HBD:c.113G>A	δ	Causative	δ-thalassaemia
2575	CD 58 +C	N/A	HBD:c.176_177insC	δ	Causative	δ-thalassaemia
1337	CD 59 (-A)	N/A	HBD:c.178delA	δ	Causative	δ-thalassaemia
3441	CD 59 AAG>A-G	N/A	HBD:c.179delA	δ	Causative	δ-thalassaemia
3237	CD59/60 (+GG)	N/A	HBD:c.180_181dupGG	δ	Causative	δ-thalassaemia
2092	CD 82 AAG>TAG	N/A	NG_000007.3:g.63557A>T	δ	Causative	δ-thalassaemia
1398		Hb Lepore-Baltimore	NG_000007.3:g.63564_70978del	δ, β	Causative	δβ-thalassaemia
3236	CD 87 CAG>C-G	N/A	HBD:c.263delA	δ	Causative	δ-thalassaemia
1338	CD 91 (+T)	N/A	HBD:c.286_287insT	δ	Causative	δ-thalassaemia
1340	IVS II-1 G>A	N/A	HBD:c.315+1G>A	δ	Causative	δ-thalassaemia
1341	IVS II-6 (T>A)	N/A	HBD:c.315+6T>A	δ	Causative	δ-thalassaemia
1507	Sicilian (δβ)0	N/A	NG_000007.3:g.64336_77738del13403	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia
1342	IVS II-894 C>T	N/A	HBD:c.316-5C>T	δ	Causative	δ-thalassaemia
1343	IVS II-897 A>C	N/A	HBD:c.316-2A>C	δ	Causative	δ-thalassaemia
2473	IVS II-897 A>G	N/A	HBD:c.316-2A>G	δ	Causative	δ-thalassaemia
3234	CD 113 (+TG)	N/A	HBD:c.341_342dupTG	δ	Causative	δ-thalassaemia
3230	CD 115 GCC>GTC [Ala>Val]	N/A	HBD:c.347C>T	δ	Causative	δ-thalassaemia
3229	CD 116 CGC>GGC [Arg>Gly]	N/A	HBD:c.349C>G	δ	Causative	δ-thalassaemia
3269	CD 147 TGA>CGA	N/A	HBD:c.442T>C	δ	Causative	δ-thalassaemia
1346	Poly A +69 (G>A)	N/A	HBD:c.*199G>A	δ	Causative	δ-thalassaemia
298	Filipino (~45 kb deletion)	N/A	NG_000007.3:g.66258_184734del118477	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2283	South-Italy	N/A	NG_000007.3:g.66902_133052del66151	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
296	Dutch (12620 bp deletion)	N/A	NG_000007.3:g.68071_80682del12612	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
289	Croatian (1605 bp deletion)	N/A	NG_000007.3:g.69561_71164del1604	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2150	1357 bp deletion	N/A	NG_000007.3:g.69997_71353del1357	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
288	Black, British (1393 bp deletion)	N/A	NG_000007.3:g.70060_71452del1393	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3277	538 bp deletion	N/A	HBB:c.-464_74del \| NG_000007.3:g.70131_70668del	β	Causative	β-thalassaemia
3278	1517 bp deletion	N/A	HBB:c.-390_316-169delinsA \| NG_000007.3: g.70205_ 71721delinsA	β	Causative	β-thalassaemia
3081	-223 T>C	N/A	HBB:c.-273T>C	β	Causative	β-thalassaemia
1	-190 (G>A)	N/A	HBB:c.-240G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2122	125 bp deletion	N/A	NG_000007.3:g.70360_70485del125	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2153	Kabylia deletion/insertion	N/A	U01317.1:g.62009_64049del2040insATAAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
283	290 bp deletion	N/A	HBB:c.-176_92+25del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2	-102 (C>A)	N/A	HBB:c.-152C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3	-101 (C>T)	N/A	HBB:c.-151C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
4	-101 (C>G)	N/A	HBB:c.-151C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3059	-98 T>A	N/A	HBB:c.-148T>A	β	Causative	β-thalassaemia
5	-93 C>G	N/A	HBB:c.-143C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
6	-92 (C>T)	N/A	HBB:c.-142C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
7	-90 (C>T)	N/A	HBB:c.-140C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3224	-90 (C>G)	N/A	HBB:c.-140C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
8	-88 (C>T)	N/A	HBB:c.-138C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
9	-88 (C>A)	N/A	HBB:c.-138C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2178	-88 C>G	N/A	HBB:c.-138C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
10	-87 C>G	N/A	HBB:c.-137C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
11	-87 (C>T)	N/A	HBB:c.-137C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
12	-87 (C>A)	N/A	HBB:c.-137C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
13	-86 C>G	N/A	HBB:c.-136C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
14	-86 (C>A)	N/A	HBB:c.-136C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3077	-83 G>A	N/A	HBB:c.-133G>A	β	Causative	β-thalassaemia
3386	-76 C>A	N/A	HBB:c.-126C>A	β	Causative	β-thalassaemia
3069	-77 G>C	N/A	HBB:c.-127G>C	β	Causative	β-thalassaemia
15	-73 (A>T)	N/A	HBB:c.-123A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2997	-72 T>A	N/A	HBB:c.-122T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2171	-71 C>T	N/A	NG_000007.3:g.70474C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3043	-71 C>T	N/A	HBB:c.-121C>T	β	Causative	β-thalassaemia
16	-56 G>C	N/A	HBB:c.-106G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
17	-50 G>A	N/A	HBB:c.-100G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3060	-42 C>G	N/A	HBB:c.-92C>G	β	Causative	β-thalassaemia
2172	-41 A>T	N/A	HBB:c.-91A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
18	-32 (C>A)	N/A	HBB:c.-82C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
19	-32 (C>T)	N/A	HBB:c.-82C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
20	-31 (A>G)	N/A	HBB:c.-81A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
21	-31 (A>C)	N/A	HBB:c.-81A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
22	-30 (T>A)	N/A	HBB:c.-80T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
23	-30 (T>C)	N/A	HBB:c.-80T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2179	-30 T>G	N/A	HBB:c.-80T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3062	-30 (-T)	N/A	HBB:c.-80delT	β	Causative	β-thalassaemia
24	-29 to -26 (-AA)	N/A	HBB:c.-79_78delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
25	-29 (A>G)	N/A	HBB:c.-79A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
26	-29 (A>C)	N/A	HBB:c.-79A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
28	-28 (A>C)	N/A	HBB:c.-78A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
29	-28 (A>G)	N/A	HBB:c.-78A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
30	-27 (A>T)	N/A	HBB:c.-77A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
31	-27 (-AA)	N/A	HBB:c.-77_-76delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2175	-26 A>C	N/A	HBB:c.-76A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
32	-25 (G>C)	N/A	HBB:c.-75G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2565	-25 G>T	N/A	HBB:c.-75G>T	β	Causative	β-thalassaemia
282	105 bp deletion	N/A	HBB:c.-74_31del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
33	-23 to +23 (+45 bp duplication)	N/A	HBB:c.-73_-8del45	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
34	CAP +1 (A>C)	N/A	HBB:c.-50A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3464	CAP +3 A>T	N/A	HBB:c.-48A>T	β	Causative	β-thalassaemia
35	CAP +8 (C>T)	N/A	HBB:c.-43C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
36	CAP +10 (-T)	N/A	HBB:c.-41delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
38	CAP +22 (G>A)	N/A	HBB:c.-29G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3345	CAP +22 (G>T)	N/A	HBB:c.-29G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2536	CAP +30 T>A	N/A	HBB:c.-21T>A	β	Causative	β-thalassaemia
39	CAP +33 (C>G)	N/A	HBB:c.-18C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2176	CAP +39 C>T	N/A	NG_000007.3:g.70583C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
40	CAP +41 to +44 (-AACA)	N/A	HBB:c.-11_-8delAAAC	β	Causative	β-thalassaemia
41	CAP +45 (G>C)	Hb Odisha	HBB:c.-6G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
42	Init CD ATG>GTG	N/A	HBB:c.1A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
43	Init CD ATG>CTG	N/A	HBB:c.1A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
44	Init CD ATG>ACG	N/A	HBB:c.2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
45	Init CD ATG>AGG	N/A	HBB:c.2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
46	Init CD ATG>AAG	N/A	HBB:c.2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
47	Init CD ATG>ATC	N/A	HBB:c.3G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
48	Init CD ATG>ATA	N/A	HBB:c.3G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
49	Init CD ATG>ATT	N/A	HBB:c.3G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
50	CD 1 (-G)	N/A	HBB:c.4delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
51	CD 2-4 (-9 bp, +31 bp)	N/A	HBB:c.8_16delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3014	CD 2 CAT>C-T	N/A	HBB:c.8delA	β	Causative	β-thalassaemia
52	CD 3 (+T)	N/A	HBB:c.9_10insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
55	CD 4/5/6: CD 4 (ACT>ACA), CD 5 (CCT>TCT), CD 6 (GAG>TAG)	N/A	HBB:c.[15T>A;16C>T;19G>T]	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
54	CD 5 -CT	N/A	HBB:c.17_18delCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2180	CD 5/6 -TG	N/A	HBB:c.18_19delTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
56	CD 6 (GAG>TAG)	N/A	HBB:c.19G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2184	CD 6-14 (-26 bp) (26 bp deletion)	N/A	HBB:c.20_45del26bp	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
57	CD 6 -A	N/A	HBB:c.20delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
58	CD 6 (-G)	N/A	HBB:c.20delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
59	CD 6-10 (-13 bp)	N/A	HBB:c.20_32del13	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
60	CD 7 GAG>TAG	N/A	HBB:c.22G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3288	CD7 GAG>G-G	N/A	HBB:c.23delA	β	Causative	β-thalassaemia
61	CD 8 (-AA)	N/A	HBB:c.25_26delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2958	CD 7/8 (+G)	N/A	HBB:c.24_25insG	β	Causative	β-thalassaemia
2185	CD 8/9 +AGAA	N/A	HBB:c.27_28insAGAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
62	CD 8/9 +G	N/A	HBB:c.27_28insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
63	CD 9 (+TA)	N/A	HBB:c.28_29insTA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
65	CD 10 (GCC>GCA)	N/A	HBB:c.33C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
66	CD 10 (-C)	N/A	HBB:c.33delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
67	CD 11 (-T)	N/A	HBB:c.36delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
154	CD 45/46(+A)	N/A	HBB:c.38_139insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3248	CD 13 GCC>GTC [Ala>Val]	N/A	HBB:c.41C>T	β	Causative	β-thalassaemia
68	CD 14 (+T)	N/A	HBB:c.44_45insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2553	CD 14 CTG>C-G	N/A	HBB:c.44delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
69	CD 14/15 (+G)	N/A	HBB:c.45_46insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
70	CD 15 (-T)	N/A	HBB:c.46delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
72	CD 15 TGG>TAG	N/A	HBB:c.47G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
71	CD 15/16 (+G)	N/A	HBB:c.48_49insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
73	CD 15 TGG>TGA	N/A	HBB:c.48G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
74	CD 15/16 (-G)	N/A	HBB:c.50delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
75	CD 16 GGC>GG-	N/A	HBB:c.51delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
76	CD 16 GGC>GGT [Gly>Gly]	N/A	HBB:c.51C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
77	CD 17 (AAG>TAG)	N/A	HBB:c.52A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
81	CD 20/21 (+G)	N/A	HBB:c.63_64insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
80	CD 20-22 (GTGGATGAA>GTGAA)	N/A	HBB:c.64_67del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
83	CD 22 (GAA>TAA)	N/A	HBB:c.67G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
84	CD 22-24 ( -7 bp): (-AAGTTGG)	N/A	HBB:c.68_74delAAGTTGG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
85	CD 24 (-G, +CAC)	N/A	HBB:c.74delinsCAC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2174	CD 24 -G	N/A	HBB:c.74delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
86	CD 24 GGT>GGA [Gly>Gly]	N/A	HBB:c.75T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
281	IVS I [3 end] -44 bp (44 bp deletion)	N/A	HBB:c.76_92+27del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
87	CD 25/26 (+T)	N/A	HBB:c.78_79insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
89	CD 26 (GAG>TAG)	N/A	HBB:c.79G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
90	CD 26 (+T)	N/A	HBB:c.79_80insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3409	CD 26 GAG>AAG, IVS I-7 A>G	Hb E-Udon Thani	HBB:c.[79G>A;92+7A>G]	β	Causative	β-thalassaemia
92	CD 27/28 (+C)	N/A	HBB:c.84_85insC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
93	CD 28 (-C)	N/A	HBB:c.85delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
95	CD 28/29 (-G)	N/A	HBB:c.89delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
96	CD 29 (C>T) or IVS I (-3) GGC>GGT (Gly>Gly)	N/A	HBB:c.90C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
97	CD 30 (A>G) or IVS I (-2) AGG>GGG (Arg>Gly)	N/A	HBB:c.91A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
98	CD 30 (A>C) or IVS I (-2) AGG>CGG [Arg>Arg]	N/A	HBB:c.91A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3484	CD 30 (-A) or IVS I (-2) AGG>-GG	N/A	HBB:c.91delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
99	CD 30 (G>A) or IVS I (-1) AGG>AAG (Arg>Lys)	N/A	HBB:c.92G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
101	IVS I-1 G>A	N/A	HBB:c.92+1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
102	IVS I-1 (G>T)	N/A	HBB:c.92+1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
103	IVS I-1 (G>C)	N/A	HBB:c.92+1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
104	IVS I-2 (T>G)	N/A	HBB:c.92+2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
105	IVS I-2 (T>C)	N/A	HBB:c.92+2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
106	IVS I-2 (T>A)	N/A	HBB:c.92+2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
107	IVS I-5 (G>C)	N/A	HBB:c.92+5G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
108	IVS I-5 (G>T)	N/A	HBB:c.92+5G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
109	IVS I-5 (G>A)	N/A	HBB:c.92+5G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
111	IVS I-6 (T>C)	N/A	HBB:c.92+6T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
112	IVS I-7 A>T	N/A	HBB:c.92+7A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3276	IVS I-7 A>G	N/A	HBB:c.92+7A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2173	IVS I-109 (-T)	N/A	HBB:c.93-22delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
113	IVS I-110 G>A	N/A	HBB:c.93-21G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
280	IVS I [3' end] (-25 bp) (25 bp deletion)	N/A	HBB:c.93-21_96del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
121	IVS I [3' end] (-17 bp) (17 bp deletion)	N/A	HBB:c.93-17_93-1delTATTTTCCCACCCTTAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3008	IVS I-115 (A>T)	N/A	HBB:c.93-16A>T	β	Causative	β-thalassaemia
114	IVS I-116 (T>G)	N/A	HBB:c.93-15T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
115	IVS I-128 (T>G)	N/A	HBB:c.93-3T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
116	IVS I-129 (A>C)	N/A	HBB:c.93-2A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
117	IVS I-129 (A>G)	N/A	HBB:c.93-2A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
118	IVS I-130 G>C	N/A	HBB:c.93-1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
119	IVS I-130 (G>A)	N/A	HBB:c.93-1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
120	IVS I-130 (+1) or CD 30, (G>C); AGG>AGC (Arg>Ser)	N/A	HBB:c.93G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
126	CD 31 (-C)	N/A	HBB:c.94delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
130	CD 33-34 (-G)	N/A	HBB:c.102_103delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
132	CD 35 TAC>TGC [Tyr>Cys]	N/A	HBB:c.107A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
133	CD 35 TAC>TAA	N/A	HBB:c.108C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3023	CD 35 TAC>TAG	N/A	HBB:c.108C>G	β	Causative	β-thalassaemia
128	CD 36 CCT>C-T	N/A	HBB:c.110del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
135	CD 36-39 (-8 bp)	N/A	HBB:c.111_118delTTGGACCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
134	CD 36/37 (-T)	N/A	HBB:c.112delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
138	CD 37 (TGG>TAG)	N/A	HBB:c.113G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
136	CD 37 -G	N/A	HBB:c.114delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
137	CD 37 (TGG>TGA)	N/A	HBB:c.114G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
139	CD 37-39 (-7 bp): (-GACCCAG)	N/A	HBB:c.114_120delGACCCAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
141	CD 38/39 (-CC)	N/A	HBB:c.117_118delCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
140	CD 38/39 (-C)	N/A	HBB:c.118delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
142	CD 39 (CAG>TAG)	N/A	HBB:c.118C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2393	CD 39 -A	N/A	HBB:c.119delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
144	CD 40 (+86 bp) (HGSA)	N/A	HBB:c.121_122ins86	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
143	CD 40 (-G)	N/A	HBB:c.123delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
145	CD 40/41 (+T)	N/A	HBB:c.123_124insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
147	CD 41/42 (-TTCT or -CTTT or -TCTT)	N/A	HBB:c.124_127delTTCT \| HBB:c.126_129delCTTT \| HBB:c.125_128delTCTT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
146	CD 41 (-C)	N/A	HBB:c.126delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
148	CD 42/43 (+T)	N/A	HBB:c.129_130insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
149	CD 42/43 (+G)	N/A	HBB:c.129_130insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
150	CD 43 (GAG>TAG)	N/A	HBB:c.130G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
151	CD 44 -C	N/A	HBB:c.135delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
153	CD 45 (+T)	N/A	HBB:c.136_137insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
152	CD 45 (-T)	N/A	HBB:c.138delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2960	CD 46/47 (+G)	N/A	HBB:c.142_142dupG	β	Causative	β-thalassaemia
155	CD 47 (+A)	N/A	HBB:c.143_144insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
156	CD 47/48 (+ATCT)	N/A	HBB:c.146_147insATCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2187	CD 48 -T	N/A	HBB:c.146delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
157	CD 49 (-C)	N/A	HBB:c.150delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
158	CD 50 (-T)	N/A	HBB:c.153delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
159	CD 51 (-C)	N/A	HBB:c.155delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2959	CD 52 GAT>G-T	N/A	HBB:c.158delA	β	Causative	β-thalassaemia
160	CD 53 (-T)	N/A	HBB:c.161delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
161	CD 53/54 +G	N/A	HBB:c.162_163insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
162	CD 54 -T	N/A	HBB:c.165delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
163	CD 54/55 +A	N/A	HBB:c.165_166insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
164	CD 54-58 (-13bp)	N/A	HBB:c.165_177delTATGGGCAACCCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
165	CD 55 (-A)	N/A	HBB:c.166delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2990	CD 55-59 (-13 bp)	N/A	HBB:c.167_179del	β	Causative	β-thalassaemia
166	CD 56-60 +14 bp	N/A	HBB:c.170_171insGCAACCCTAAGGTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
167	CD 57/58 (+C)	N/A	HBB:c.174_175insC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3311	CD 58 CCT>C-T	N/A	HBB:c.176delC	β	Causative	β-thalassaemia
169	CD 59 (AAG>TAG)	N/A	HBB:c.178A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3061	CD 59 (+T)	N/A	HBB:c.178_179insT	β	Causative	β-thalassaemia
168	CD 59 -A	N/A	HBB:c.179delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
172	CD 61 (AAG>TAG)	N/A	HBB:c.184A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2431	CD 61/62 +65 bp	N/A	HBB:c.187_251dup	β	Causative	β-thalassaemia, Haemolytic anaemia
171	CD 62-64 (-7 bp)	N/A	HBB:c.189_195delTCATGGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3100	CD 62-64 (-7bp): (-TCATGGC)	N/A	HBB:c.189_195delTCATGGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
173	CD 64 (-G)	N/A	HBB:c.194delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
174	CD 66 (AAA>TAA)	N/A	HBB:c.199A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2188	CD 66 -A	N/A	HBB:c.201delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
175	CD 67 (-TG)	N/A	HBB:c.203_204delGT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3019	CD 68-70 (-7bp): (-TCGGTGC)	N/A	HBB:c.206_212delTCGGTGC	β	Causative	β-thalassaemia
2522	CD 69 GGT>G-T	N/A	HBB:c.209delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2189	CD 69 -T	N/A	HBB:c.210delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
176	CD 71/72 +T	N/A	HBB:c.216_217insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
177	CD 71/72 +A	N/A	HBB:c.216_217insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2462	CD 71 -T	N/A	HBB:c.216delT	β	Causative	β-thalassaemia
178	CD 72-73 (-AGTGA, +T)	N/A	HBB: c.217_221delAGTGAinsT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2181	CD 72/73 +T	N/A	HBB:c.219_220insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3374	CD 72 AGT>AGA [Ser>Arg]; CD 73 GAT>TAT [Asp>Tyr]	Hb South China	HBB:c.[219T>A;220G>T]	β	Causative	β-thalassaemia
179	CD 74/75 (-C)	N/A	HBB:c.225delC or HBB:c.226delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
180	CD 76 GCT>--T (-GC)	N/A	HBB:c.229_230delGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
181	CD 76 (-C)	N/A	HBB:c.230delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
182	CD 77/78 (-C)	N/A	HBB:c.232delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3299	CD 78/77 +C	N/A	HBB:c.235_236insC	β	Causative	β-thalassaemia
3225	CD 78/85 (-20bp)	N/A	HBB:c.237_256delGGACAACCTCAAGGGCACCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
183	CD 80/81 (-C)	N/A	HBB:c.244delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
184	CD 81-87 (-22 bp)	N/A	HBB:c.244_265del22	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
185	CD 82/83 (-G)	N/A	HBB:c.251delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2190	CD 83 (+65 bp duplication)	N/A	HBB:c.251_252ins65	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
186	CD 83-86 (-8 bp): (-CACCTTTG)	N/A	HBB:c.252_259del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2484	CD 83/84 +65 bp	N/A	HBB:c.252_253insNG_000007.3:g.70911_70975	β	Causative	β-thalassaemia
187	CD 84/85 (+C)	N/A	HBB:c.255_256insC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
188	CD 84-86 +T	N/A	HBB:c.258_259insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3253	CD 88 CTG>--G (HBB:c.265_266delCT)	N/A	HBB:c.265_266del	β	Causative	β-thalassaemia
189	CD 88 +T	N/A	HBB:c.266_267insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
190	CD 88 (-TG)	N/A	HBB:c.266_267del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3287	CD 89-93 (-14bp): (-AGTGAGCTGCACTG)	N/A	HBB:c.268_281delAGTGAGCTGCACTG	β	Causative	β-thalassaemia
191	CD 89/90 (AGTGAG>AGAG)	N/A	HBB:c.270_271del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
192	CD 90 GAG>TAG	N/A	HBB:c.271G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3044	CD 90 GAG>-AG	N/A	HBB:c.271delG	β	Causative	β-thalassaemia
3057	CD 90 (+24 bp) (+AGCTGCACTGTGACAAGCTGCACG)	N/A	HBB:c.272_295dup	β	Causative	β-thalassaemia
3133	IVS II-1 G>A and CD 91 CTG>TTG [Leu>Leu]	N/A	HBB:c.[315+1G>A; 274C>T]	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
194	CD 91 (+T)	N/A	HBB:c.275_276insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
196	CD 95 +A	N/A	HBB:c.287_288insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2279	CD 102 AAC>ATCAC	N/A	HBB:c.308insTC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
200	IVS II-1 G>A	N/A	HBB:c.315+1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
201	IVS II-1 G>C	N/A	HBB:c.315+1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
202	IVS II-1 G>T	N/A	HBB:c.315+1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
203	IVS II-2 T>C	N/A	HBB:c.315+2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
204	IVS II-2 (T>A)	N/A	HBB:c.315+2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
205	IVS II-2 (-T)	N/A	HBB:c.315+2del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2182	IVS II-2 -TGAGTCTATGGG	N/A	HBB:c.315+2_315+13delTGAGTCTATGGG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3226	IVS II-2 T>G	N/A	HBB:c.315+2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
207	IVS II 4/5 -AG	N/A	NG_000007.3:g.71043_71044delAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
208	IVS II-5 (G>C)	N/A	HBB:c.315+5G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
286	Asian Indian (619 bp deletion)	N/A	NG_000007.3:g.71609_72227del619	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
210	IVS II-613 C>T	N/A	HBB:c.316-238C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3391	IVS-II-648/649 (-T)	N/A	HBB:c.316-202del	β	Causative	β-thalassaemia
211	IVS II-654 C>T	N/A	HBB:c.316-197C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
212	IVS II-705 (T>G)	N/A	HBB:c.316-146T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
213	IVS II-726 A>G	N/A	HBB:c.316-125A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
214	IVS II-745 C>G	N/A	HBB:c.316-106C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
215	IVS II-761 A>G	N/A	HBB:c.316-90A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2200	IVS II-765 L1 insertion	N/A	HBB:c.316-86_316-85insCTGCTTTTATTTT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2183	IVS II-781 C>G	N/A	HBB:c.316-70C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
216	IVS II-815 (C>T)	N/A	HBB:c.316-36C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
217	IVS II-837 (T>G)	N/A	HBB:c.316-14T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
218	IVS II-843 (T>G)	N/A	HBB:c.316-8T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
219	IVS II-844 (C>A)	N/A	HBB:c.316-7C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
220	IVS II-844 (C>G)	N/A	HBB:c.316-7C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
221	IVS II-848 (C>A)	N/A	HBB:c.316-3C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
222	IVS II-848 (C>G)	N/A	HBB:c.316-3C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3045	IVS II-848 C>T	N/A	HBB: c.316-3C>T	β	Causative	β-thalassaemia
223	IVS II-849 (A>G)	N/A	HBB:c.316-2A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
224	IVS II-849 (A>C)	N/A	HBB:c.316-2A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
225	IVS II-850 G>C	N/A	HBB:c.316-1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
226	IVS II-850 (G>A)	N/A	HBB:c.316-1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
227	IVS II-850 (G>T)	N/A	HBB:c.316-1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
228	IVS II-850 (-G)	N/A	HBB:c.316-1delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
231	CD 106/107 (+G)	N/A	HBB:c.321_322insG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2191	CD 107-111 (-12 bp)	N/A	HBB:c.323_334delGGCAACGTGCTGG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3344	CD 107 +G	N/A	HBB:c.323dupG	β	Causative	β-thalassaemia
3024	CD 111-115 (-12bp): (-TCTGTGTGCTGG)	N/A	HBB:c.335-346del12bp	β	Causative	β-thalassaemia
235	CD 112 (TGT>TGA)	N/A	HBB:c.339T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2192	CD 114 +TGTGCTG	N/A	HBB:c.345_346insTGTGCTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
240	CD 116 +TGAT	N/A	NG_000007.3:g.71923_71924insTGAT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2194	CD 124-125 +A	N/A	HBB:c.375_376insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2195	CD 125-127 (-CAGTGC)	N/A	HBB:c.377_382delCAGTGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2196	CD 130 TAT>TAA	N/A	HBB:c.393T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
258	CD 131 (CAG>TAG)	N/A	HBB:c.394C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2197	CD 131 +A	N/A	HBB:c.394_395insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
259	CD 131/132 (+GCCT)	N/A	HBB:c.396_397insGCCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
262	CD 132 (AAA>TAA)	N/A	HBB:c.397A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3289	CD138 (+T)	N/A	HBB:c.416_417insT	β	Causative	β-thalassaemia
3361	CD 138/139 (+T)	N/A	HBB:c.417_418insT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
266	CD 142 (-CC)	N/A	HBB:c.428_429delCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
267	Terminal CD +6 C>G [CAP +1480]	N/A	HBB:c.*6C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2177	Terminal CD +32 A>C	N/A	HBB:*32A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
268	Terminal CD +47 C>G	N/A	HBB:c.*47C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
269	3'UTR -13 bp [CAP +1567 to +1579]	N/A	HBB:c.93_105delATCTGGATTCTGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3048	3' UTR, +C, -TGGATTCT	N/A	HBB:c.96_103delTGGATTCTinsC	β	Causative	β-thalassaemia
3443	Cap +1570 (T>C)	N/A	HBB:c*96T>C	β	Causative	β-thalassaemia
270	Poly A (A>C) AATAAA>CATAAA	N/A	HBB:c.*108A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
271	Poly A (A>G) AATAAA>GATAAA	N/A	HBB:c.*108A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
278	polyA (-AATAA)	N/A	HBB:c.108_112delAATAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
277	Poly A (-AT) AATAAA-AAAA	N/A	HBB:c.109_110delAT \| HBB:c.110_111delTA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
272	Poly A (T>C) AATAAA>AACAAA	N/A	HBB:c.*110T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
273	Poly A (T>A) AATAAA>AAAAAA	N/A	HBB:c.*110A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
279	polyA (-TAAAA)	N/A	HBB:c.110_114del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
274	Poly A (A>G) AATAAA>AATGAA	N/A	HBB:c.*111A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2199	Poly A (-AA) AATAAA>AAT--A	N/A	NG_000007.3:g.72129_72130delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
275	Poly A (A>G) AATAAA>AATAGA	N/A	HBB:c.*112A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
2198	Poly A (A>T) AATAAA>AATATA	N/A	HBB:c.*112A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
276	Poly A (A>G) AATAAA>AATAAG	N/A	HBB:c.*113A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis
3046	polyA (-AA)	N/A	HBB:c.115_116delAA	β	Causative	β-thalassaemia
2564	3'UTR +1592 (A>G)	N/A	HBB:c.*118A>G	β	Causative	β-thalassaemia
2463	3' UTR +101 G>C	N/A	HBB:c.*233G>C	β	Causative	β-thalassaemia

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.