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Showing all α-thalassaemias (Show All):
| IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
|---|---|---|---|---|---|---|---|---|
| 348 | -α3.7;CD 14 TGG>CGG | Hb Evanston | N/A | α1 or α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | |
| 400 | -α3.7;CD 109 CTG>CGG | Hb Suan Dok | N/A | α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | |
| 410 | -α3.7;CD 125 CTG>CAG [Leu>Gln] | N/A | N/A | α1 or α2, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2244 | (αα)JM | N/A | NC_000016.10:48642_132584del | HS40, ζ, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2248 | (αα)Sco | N/A | NC_000016.10:g.(93618_93635)_(141631_141648)del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2252 | --BR | N/A | NC_000016.10:g.11555_229482del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2268 | --BA | N/A | NC_000016.10:g.0_772369del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 2555 | α12 (HBA2 gene conversion) | N/A | N/A | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 2562 | (αα)HS40del (deletion of HS-40 region, chr16:g.(?_103625)_(163701_193676)del [GRCh37(hg19)]) | N/A | NC_000016.10:g.(?_53625)_(113702_143677)del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 3071 | --235 (--175) | N/A | NC_000016.10:g.10001_185264del | HS40, ζ, α2, α1, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 3275 | (αα)ALT | N/A | NC_000016.10:g.113194_116554delins39 | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 3292 | 15 kb deletion | N/A | NC_000016.10:g.172736_187935del | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 3296 | --GB | N/A | NC_000016.9:g.(161901_161910)_(178672_178681)del | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 3407 | (αα)JS | N/A | NC_000016.10:g.46628_126325del | HS40, NPRL3 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
| 3588 | --OY | N/A | NC_000016.10:g.0_318541del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 3622 | --71.8 (71.8 Kb deletion) | N/A | NC_000016.10:g.138971_210817del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 3631 | -α3.7;CD 104 TGC>TAC | Hb Sallanches | N/A | α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | |
| 3663 | HS-40 deletion | N/A | NC_000016.10:g.(47217_113592)_(113687_143639)del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 3711 | (αα)YD | N/A | NC_000016.10:g.94096_147948del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 3821 | --196 | N/A | NC_000016.10:g.35880_(232158_243266)del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 3822 | --227 | N/A | NC_000016.10:g.35880_(262740_268502)del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 3886 | (αα)107kb deletion | N/A | NC_000016.10:g.44082_151511del | HS40, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
| 3889 | (αα)Aurora Borealis | N/A | NC_000016.10:g.(48303_50379)_ (165612_167685)del | HS40, ζ, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 3946 | 16 kb HS-40 deletion | N/A | NC_000016.10:g.100600_116678del | HS40, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
| 3957 | 68.9 kb HS-40 deletion | N/A | NC_000016.10:g.52778_121630del | HS40, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
| 4015 | --259 | N/A | NC_000016.10:g.27301_286500del | HS40, ζ, α2, α1, NPRL3 | Causative | α-thalassaemia | NG_000006.1 | |
| 4058 | --FG | N/A | N/A | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 4059 | --Sciacca | N/A | N/A | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 4060 | --AG | N/A | NC_000016.10:g.10001_(284537_284542)del | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 4061 | --Puglia | N/A | NC_000016.10:g.(54016_55432)_(220780_223388)del | HS40, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 4062 | 285 kb deletion | N/A | N/A | HS40, ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | |
| 4073 | (αα)FJ (--FJ) | N/A | NC_000016.10:g.39268_130758del | HS40 | Causative | α-thalassaemia | NG_000006.1 | |
| 4082 | --LAMPHUN (27 kb deletion with 9 bp insertion (Lamphun deletion)) | N/A | N/A | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 4090 | --Mococa (17 kb deletion) | N/A | NC_000016.10:g.(162059_162078)_(179126_179145)del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | |
| 4095 | --Guigang (145 kb deletion) | N/A | NC_000016.10:g.127815_273190del | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | |
| 306 | -α7.9 | N/A | NG_000006.1:g.28322_36260del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 307 | -α18 (18 kb deletion) | N/A | N/A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 316 | -(α)5.2 | N/A | N/A | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 322 | --CI (28+ kb deletion.) | N/A | NC_000016.10:g.(158380_161516)_ (186053_?) | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 324 | --115 | N/A | NC_000016.10:g.(13158_13584)_(39907_41256)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 326 | --YEM | N/A | NG_000006.1:g.(16201_17547)_(41420_42633)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 329 | --KOL | N/A | NC_000016.10:g.(151719_151746)_(185067_185093)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 330 | --11.1 (11.1 kb deletion) | N/A | NG_000006.1:g.(31695_31724)_(42846_42867)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 331 | --OH | N/A | NC_000016.10:g.(149158_152418)_(249560_284571)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 332 | (αα)RA | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 333 | (αα)TI | N/A | NC_000016.10:g.10023_122854del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 334 | (αα)IJ | N/A | N/A | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 335 | (αα)CMO | N/A | NC_000016.10:g.10018_157684del | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 336 | (αα)TAT | N/A | NC_000016.10:g.10020_152823del | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 337 | (αα)MB | N/A | N/A | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 338 | (αα)IC | N/A | NC_000016.10:g.10018_131194delinsAC | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 339 | (αα)IdF | N/A | NC_000016.10:g.10020_154449del | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2233 | -ζ | N/A | N/A | ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2234 | -α16.6 | N/A | NG_000006.1:g.(19842_19845)_(36479_36486)delins22446_24085inv | ζ, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2235 | α-αΔ970 (970 bp deletion) | N/A | NG_000006.1:g.36599_37568delinsTAG | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2236 | --DUTCH I | N/A | NG_000006.1:g.7622_41156del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2237 | --AW | N/A | NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2238 | --BGS | N/A | NC_000016.10:g.47749_179374del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2239 | --CAMPANIA | N/A | NC_000016.10:g.(8635_8924)_(39835_40133)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2240 | --FIL-2 (27.9 deletion) | N/A | NC_000016.10:g.156188_184103del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2241 | --ED | N/A | NC_000016.10:g.(110582_113386)_(187266_188773)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2242 | --GP | N/A | NC_000016.10:g.(43803_47123)_(187266_188649)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2243 | (αα)AS | N/A | N/A | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2245 | (αα)MM | N/A | NC_000016.10:g.(?_53322)_(141396_143702)del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2246 | (αα)L | N/A | NC_000016.10:g.(?_55799)_(152345_162796)del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2247 | (αα)SN | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2249 | (αα)ZW | N/A | NC_000016.10:g. 90778_106773del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2250 | (αα)RSR | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2251 | (αα)MCu | N/A | N/A | HS40, ζ | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2253 | --ZW | N/A | NC_000016.10:g.11555_229482del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2254 | --JY | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2255 | --LC | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2256 | --VR | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2257 | --JT | N/A | NC_000016.10:g.(44035_44092)_(312033_312090)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2258 | --AB | N/A | NC_000016.10:g.(?_55799)_(360870_410354)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2259 | --GZ | N/A | NC_000016.10:g.(?_53322)_(879639_910965)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2260 | Dutch II | N/A | NC_000016.10:g.(?_55799)_(284538_298092)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2261 | --MK | N/A | NC_000016.10:g.(113696_130566)_(298093_ 331093)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2262 | --80 | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2264 | --Brazil | N/A | NC_000016.10:g.(?_55799)_(986613_1063737)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2265 | --PV | N/A | NC_000016.10:g.(?_55799)_(1625950_1740473)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2266 | --HN | N/A | NC_000016.10:g.(?_55799)_(1923864_ 1939057)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2267 | --FT | N/A | NC_000016.10:g.(?_55799)_(1857769_1890275)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2269 | --TN | N/A | NC_000016.10:g.0_976709del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2270 | --BO | N/A | NC_000016.10:g.0_1896761del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2271 | --IM | N/A | NC_000016.10:g.0_2021644del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2272 | --LIN | N/A | NC_000016.10:g.0_2023655del | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 2273 | --GS | N/A | N/A | HS40, ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3021 | --JAL | N/A | NC_000016.10:g.(149437_149482)_(179595_179654)del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3022 | --LOD | N/A | NC_000016.10:g.(45349_45393)_(262286_262330)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3067 | --MEX1 | N/A | NG_000006.1:g.3(33114_33812)_(40649_42021)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3068 | --MEX2 | N/A | NC_000016.10:g.(113775_130542)_(208161_249560)del | HS40, ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3074 | (αα)JX | N/A | NC_000016.10:g.113161_113902del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3142 | -α6.3 | N/A | NG_000006.1:g.31022_37366del6344 | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3215 | --Braz | N/A | NC_000016.10:g.(167305_169853)_(239884_271794)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3244 | −KOZANI | N/A | NC_000016.10:g.(113686_143638)_(407521_?)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3255 | --MEX3 | N/A | NC_000016.10:g.151479_182582del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3258 | --NFLD | N/A | NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3273 | --VS | N/A | NC_000016.10:g.(100364_105222)_(376261_986851)del | HS40, ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3274 | --CBR | N/A | NC_000016.10:g.(?_53322)_(177893_179815)del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3283 | --JS | N/A | NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3284 | --PG | N/A | NC_000016.10:g.93628_542759del450131 | HS40, ζ, α2, α1, NPRL3, HBM, AXIN1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3293 | 97 kb deletion | N/A | NC_000016.10:g.56407_153678del | HS40 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3295 | 225 kb deletion | N/A | NC_000016.10:g.56407_281805del | HS40, ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3327 | --GX | N/A | NC_000016.10:g.(41492_43628)_(247888_254167)del | HS40, ζ, α2, α1, NPRL3, HBM | Causative | α-thalassaemia | NG_000006.1 | 0 |
| 3440 | -αMAL3.5 | N/A | NG_000006.1:g.32745_36301del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 3514 | 170 kb deletion | N/A | N/A | α2, α1, AXIN1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 0 |
| 327 | --MC | N/A | NC_000016.10:g.139301_182501del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 164 |
| 3607 | 63 Kb deletion | N/A | NC_000016.10:g.(143655_149367)_(181204_206338)del | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 4518 |
| 3214 | 44.6 kb deletion | N/A | NC_000016.10:g.144215_188841del | ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 5078 |
| 3595 | --CR | Hb Chiang Rai | NC_000016.10:g.144215_188843del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 5078 |
| 2554 | -α28.5 | N/A | NG_000006.1g.7065_35627del28563 | ζ, α2 | Causative | α-thalassaemia | NG_000006.1 | 7065 |
| 4057 | --PA | N/A | NC_000016.10:g.(146281_146304)_(180074_180097)del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 7144 |
| 3408 | --60.2 | N/A | NC_000016.10:g.147589_207883del | ζ, α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8452 |
| 323 | --CAL | N/A | NG_000006.1:g.8464_40664del32201 | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8464 |
| 313 | --MED II | N/A | NG_000006.1:g.(7740_9712)_(39907_41156)del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 8726 |
| 3020 | --DANE | N/A | NG_000006.1: g.8800_40007del31208 | ζ, α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 8800 |
| 2232 | -α27.6 | N/A | NG_000006.1:g.9079_36718del27640 | ζ, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 9079 |
| 4110 | 146 kb deletion | N/A | NC_000016.10:g.148636_295089del | ζ, α2, α1, HBM, AXIN1 | Causative | α-thalassaemia | NG_000006.1 | 9499 |
| 3963 | 32.8 kb deletion | N/A | NC_000016.10:g.149860_182697del | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 10723 |
| 310 | --THAI | N/A | NC_000016.10:g.149863_183312del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 10726 |
| 325 | --RT | N/A | NC_000016.10:g.151401_188301del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 12264 |
| 311 | --FIL | N/A | NC_000016.10:g.151641_182316del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 12504 |
| 321 | --CL | N/A | NC_000016.10:g.152451_263801del | ζ, α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 13314 |
| 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 | NG_000006.1 | 14373 |
| 4019 | 27.2 kb deletion (--27.2) | N/A | NC_00016.10:g.154539_181778delinsTAACA | ζ, α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 15402 |
| 320 | --BRIT | N/A | NC_000016.10:g.155501_184801del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 16364 |
| 314 | -(α)20.5 | N/A | NG_000006.1:g.(18148_18200)_(37868_37901)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 18200 |
| 319 | --MA | N/A | NG_000006.1:g.18964_39864del20901 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 18964 |
| 315 | --SA | N/A | NC_000016.10:g.159052_182788delins139752_139596 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 19464 |
| 3947 | 27.3 kb deletion | N/A | NC_000016.10:g.158664_185974del | α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 19527 |
| 3294 | 22 kb deletion | N/A | NG_000006.1:g.20350_42078del | α2, α1, HBM | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 20350 |
| 312 | --MED I | N/A | NG_000006.1:g.(23641_23662)_(41183_41203)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 23662 |
| 3945 | 15.8 kb deletion (NG_000006.1:g.24749_40631del) | N/A | NC_000016.10:g.163886_179768del | α2, α1, HBM | Causative | α-thalassaemia | NG_000006.1 | 24749 |
| 309 | --SEA | N/A | NC_000016.10:g.165401_184701del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 26264 |
| 305 | -α5.3 | N/A | NG_000006.1:g.28684_33930del5246 | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 28684 |
| 328 | --CANT | N/A | NC_000016.10:g.(168531_169756)_(182770_183028)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 29394 |
| 4020 | 14.9 kb deletion | N/A | NC_00016.10:g.168803_183737del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 29666 |
| 3603 | -α6.9 | N/A | NG_000006.1:g.29785_36746del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 29785 |
| 318 | --SPAN | N/A | NC_000016.10:g.(169756_170100)_(179044_181595)del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 30619 |
| 301 | -α4.2 | N/A | NC_000016.10:g.169818_174075del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 30681 |
| 3966 | 5.9 kb deletion | N/A | NG_000006.1:g.30779_36726del | α2 | Causative | α-thalassaemia | NG_000006.1 | 30779 |
| 3018 | --NOR | N/A | NC_000016.10:g.170694_184101del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 31577 |
| 4115 | 45.2 kb deletion | N/A | NC_000016.10:g.171252_216415del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 32115 |
| 3360 | 9.7 kb deletion | N/A | NG_000006.1:g.32709_42418del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 32709 |
| 317 | --GEO | N/A | NG_000006.1:g.32864_42264del9401 | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 32864 |
| 3268 | 811 bp deletion | N/A | NG_000006.1:g.32945_33755 | α2 | Causative | α-thalassaemia | NG_000006.1 | 32945 |
| 3994 | 10.3 kb deletion | N/A | NC_000016.10:g.172342_182690del | α2, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33205 |
| 4083 | -(α)4.9 (4.9 Kb deletion) | N/A | NC_000016.10:g.172367_177259delinsG | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 33230 |
| 2988 | -54 G>A | N/A | HBA2:c.-91G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33685 |
| 2967 | -22 C>T | N/A | HBA2:c.-59C>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33717 |
| 3725 | -4 G>C | N/A | HBA2:c.-41C>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33735 |
| 3726 | Cap +11 T>A | N/A | HBA2:c.-27T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33749 |
| 3727 | Cap +23 C>G | N/A | HBA2:c.-15C>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33761 |
| 3728 | Cap +30 A>C | N/A | HBA2:c.-8A>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 33768 |
| 346 | -α3.7;Init CD ACCATG>--CATG | N/A | NG_000006.1:g.[33773_33774del;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33773, 34247 |
| 3051 | Init CD ACCATG>-CCATG | N/A | HBA2:c.-3delA | α2 | Causative | α-thalassaemia | NG_000006.1 | 33773 |
| 344 | Init CD ATG>-TG | N/A | HBA2:c.1delA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33776 |
| 345 | -α3.7;Init CD ATG>GTG | N/A | NG_000006.1:g.[33776A>G;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33776, 34247 |
| 3050 | Init CD ATG>TTG [Met>Leu] | N/A | HBA2:c.1A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
| 3604 | Init CD ATG>GTG [Met>Pro] | N/A | HBA2:c.1A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
| 342 | Init CD ATG>ACG [Met>Thr] | N/A | HBA2:c.2T>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
| 343 | Init CD ATG>A-G | N/A | HBA2:c.2delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
| 2460 | Init CD ATG>AGG [Met>Arg] | N/A | HBA2:c.2T>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
| 3754 | Init CD ATG>AAG [Met>Lys] | N/A | HBA2:c.2T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33777 |
| 3564 | Init CD ATG>ATC [Met>Ile] | N/A | HBA2:c.3G>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 33778 |
| 4071 | CD 1 (-G) | N/A | HBA2:c.4del | α2 | Causative | α-thalassaemia | NG_000006.1 | 33779 |
| 3720 | CD 1/2 (+TG) | N/A | HBA2:c.6_7insTG | α2 | Causative | α-thalassaemia | NG_000006.1 | 33781 |
| 2469 | CD 7 AAG>TAG | N/A | HBA2:c.22A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33797 |
| 2206 | CD 8 (-C) | N/A | HBA2:c.27delC | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33802 |
| 4011 | CD 9 AAC>TAC [Asn>Tyr] | N/A | HBA2:c.28A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33803 |
| 3991 | CD 10 GTC>GAC [Val>Asp] | Hb Chumphae | HBA2:c.32T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33807 |
| 2433 | CD 13-14 -GCCTGG [-Ala-Trp] | Hb Souli | HBA2:c.40_45delGCCTGG | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33815 |
| 3599 | CD 13 GCC>TCC [Ala>Ser] | Hb Binyang | HBA2:c.40G>T | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33815 |
| 2518 | CD 14 TGG>TGA | N/A | HBA2:c.45G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33820 |
| 3841 | CD 15 GGT>AGT [Gly>Ser] | Hb Nanchang | HBA2:c.46G>A | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33821 |
| 4024 | CD 15 (-GG, +C) | N/A | HBA2:c.46_47delinsC | α2 | Causative | α-thalassaemia | NG_000006.1 | 33821 |
| 4063 | CD 15 (-G, +CC) | N/A | HBA2:c.47delinsCC | α2 | Causative | α-thalassaemia | NG_000006.1 | 33822 |
| 3714 | CD 15/16 (+T) | N/A | HBA2:c.48_49insT | α2 | Causative | α-thalassaemia | NG_000006.1 | 33823 |
| 3623 | CD 16 AAG>CAG [Lys>Gln] | Hb Heilongjiang | HBA2:c.49A>C | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33824 |
| 3885 | CD 17 (-C) (Hb Kunming) | N/A | HBA2:c.54delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 33829 |
| 350 | CD 18 GGC>G-C | N/A | HBA2:c.56delG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33831 |
| 2465 | CD 19 GCG>GC- | N/A | HBA2:c.60delG | α2 | Causative | α-thalassaemia | NG_000006.1 | 33835 |
| 351 | CD 21 GCT>TCT [Ala>Ser] | Hb Zoetermeer | HBA2:c.64G>T | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33839 |
| 2207 | CD 21/22 +T | N/A | HBA2:c.66dupT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33841 |
| 352 | CD 22 GGC>GGT new donor consensus | N/A | HBA2:c.69C>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33844 |
| 353 | CD 22 -C | N/A | HBA2:c.69delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33844 |
| 354 | CD 23 GAG>TAG [Glu>STOP] | N/A | HBA2:c.70G>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33845 |
| 3915 | -α3.7;CD 23 GAG>AAG | Hb Chad | NG_000006.1:g.34247_38050del;33845G>A | α3.7 hybrid | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33845 |
| 2208 | CD 24 TAT>TAG | N/A | HBA2:c.75T>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33850 |
| 2488 | CD 24 TAT>TAA | N/A | HBA2:c.75T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33850 |
| 2538 | CD 25 GGT>GAT [Gly>Asp] | Hb Cibeles | HBA2:c.77G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33852 |
| 355 | CD 26 GCG>ACG [Ala>Thr] | Hb Caserta | HBA2:c.79G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33854 |
| 3657 | CD 26 GCG>ACG [Ala>Thr];CD 130 GCT>CCT [Ala>Pro] | Hb Southern Italy | HBA2:c.[79G>A;391G>C] | α2 | Causative | α-thalassaemia | NG_000006.1 | 33854, 34425 |
| 3568 | CD 28 GCC>-CC | N/A | HBA2:c.85delG | α2 | Causative | α-thalassaemia | NG_000006.1 | 33860 |
| 356 | CD 29 CTG>CCG [Leu>Pro] | Hb Agrinio | HBA2:c.89T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33864 |
| 357 | CD 30 -GAG [-Glu] | N/A | HBA2:c.91_93delGAG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33866 |
| 365 | -α3.7;CD 31 AGG>--G | N/A | NG_000006.1:g.[33869_33870del;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | 33869, 34247 |
| 2210 | CD 31 AGG>CGG [Arg>Arg] | N/A | HBA2:c.94A>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33869 |
| 2487 | CD 31 AGG>GGG [Arg>Gly] | Hb Maranon | HBA2:c.94A>G | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33869 |
| 3217 | CD 31 AGG>TGG [Arg>Trp] | Hb Debao | HBA2:c.94A>T | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33869 |
| 366 | CD 31 AGG>AAG [Arg>Lys] | N/A | HBA2:c.95G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33870 |
| 2483 | IVS I-1 G>T | N/A | HBA2:c.95+1G>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33871 |
| 3745 | IVS I-1 G>A | N/A | HBA2:c.95+1G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33871 |
| 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 | NG_000006.1 | 33872 |
| 360 | IVS I-5 G>A | N/A | HBA2:c.95+5 G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33875 |
| 4043 | IVS I-57 C>T | N/A | HBA2:c.95+7C>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33877 |
| 3729 | IVS I-11 (-24bp) (Hb Qujing) | N/A | HBA2:c.95+11_95+34del | α2 | Causative | α-thalassaemia | NG_000006.1 | 33881 |
| 362 | IVS I-55 G>A | N/A | HBA2:c.95+55 G>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33925 |
| 3976 | IVS I-68 G>A | N/A | HBA2:c.96-50G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33938 |
| 3730 | IVS I-73 G>A | N/A | HBA2:c.96-45G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33943 |
| 3877 | IVS I-114 G>T | N/A | HBA2:c.96-4G>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33984 |
| 363 | IVS I-116 GCAGGA>GCGGGA acceptor | N/A | HBA2:c.96-2A>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33986 |
| 2957 | IVS I-117 G>A | N/A | HBA2:c.96-1G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33987 |
| 2209 | CD 32 ATG>AGG [Met>Arg] (Hb Gran Vía) | Hb Rotterdam | HBA2:c.98T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33990 |
| 367 | CD 32 G>A | Hb Amsterdam | HBA2:c.99G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33991 |
| 368 | CD 33 T>C | Hb Chartres | HBA2:c.101T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33993 |
| 369 | CD 35 TCC>CCC [Ser>Pro] | Hb Evora | HBA2:c.106T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33998 |
| 2211 | CD 37 CCC>CC- | N/A | HBA2:c.114delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34006 |
| 372 | CD 39-41 (-9 bp, + 8 bp) | N/A | NG_000006.1:g.34010_34018delinsTACTTCCC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34010 |
| 3765 | CD 39 (-ACC) [-Thr] | Hb Taybe | HBA2:c.118_120del | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34010 |
| 2493 | CD 40 AAG>AA- | N/A | HBA2:c.123delG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34015 |
| 373 | CD 42 TAC>CAC [Tyr>His] | Hb Barika | HBA2:c.127T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34019 |
| 2214 | CD 43 TTC>T-C | N/A | HBA2:c.131delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34023 |
| 2215 | CD 43/44 -C | N/A | HBA2:c.132delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34024 |
| 3405 | CD 47-53 (-20bp): (-GACCTGAGCCACGGCTCTGC) | N/A | HBA2:c.142_161del | α2 | Causative | α-thalassaemia | NG_000006.1 | 34034 |
| 2216 | CD 47 -A | N/A | HBA2:c.143delA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34035 |
| 3053 | CD 47/48 (-4bp): (-ACCT) | N/A | HBA2:c.143_146delACCT | α2 | Causative | α-thalassaemia | NG_000006.1 | 34035 |
| 3694 | CD 48 CTG>CAG [Leu>Gln] | Hb Ijselland | HBA2:c.146T>A | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34038 |
| 374 | CD 49 -GC | N/A | HBA2:c.149_150delGC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34041 |
| 2217 | CD 51/52 +G | N/A | HBA2:c.156_157insG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34048 |
| 376 | CD 54 (CAG>TAG) | N/A | HBA2:c.163C>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34055 |
| 3693 | CD 54 CAG>-AG | N/A | HBA2:c.163delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34055 |
| 3079 | CD 55 +T | N/A | HBA2:c.168dup | α2 | Causative | α-thalassaemia | NG_000006.1 | 34060 |
| 3054 | CD 56 AAG>--G | N/A | HBA2:c.169_170delAA | α2 | Causative | α-thalassaemia | NG_000006.1 | 34061 |
| 379 | CD 59 GGC>CGC [Gly>Arg] | Hb Zurich-Albisrieden | HBA2:c.178G>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34070 |
| 377 | CD 59 GGC>GAC [Gly>Asp] | Hb Adana | HBA2:c.179G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34071 |
| 3286 | CD 61 AAG>TAG [Lys>STOP] | N/A | HBA2:c.184A>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34076 |
| 384 | CD 66 CTG>CCG [Leu>Pro] | Hb Dartmouth | HBA2:c.190T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34082 |
| 2218 | CD 63-76 (-42 bp) | N/A | HBA2:c.190_231del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34082 |
| 2576 | CD 68 AAC>A-C | N/A | HBA2:c.206delA | α2 | Causative | α-thalassaemia | NG_000006.1 | 34098 |
| 3973 | -α3.7;CD 68 AAC>AAR (-α3.7-Hb G-Philadelphia) | Hb G-Philadelphia | NG_000006.1:g.[34099C>R;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34099, 34247 |
| 4070 | CD 68 (-C) | N/A | HBA2:c.207del | α2 | Causative | α-thalassaemia | NG_000006.1 | 34099 |
| 3705 | CD 72 (+C) | N/A | HBA2:c.217dup | α2 | Causative | α-thalassaemia | NG_000006.1 | 34109 |
| 3055 | CD 73/74 (-4bp): (-GTGG) | N/A | HBA2:c.220_223delGTGG | α2 | Causative | α-thalassaemia | NG_000006.1 | 34112 |
| 611 | CD 75 (-GAC) | Hb Watts | HBA2:c.226_228del | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34118 |
| 3632 | CD 76/77 (+T) | N/A | HBB:c.231_232insT | α2 | Causative | α-thalassaemia | NG_000006.1 | 34123 |
| 3974 | CD 82-83 (-CCTG) | N/A | HBA2:c.249_252del | α2 | Causative | α-thalassaemia | NG_000006.1 | 34141 |
| 3569 | CD 89-93 (-13bp): (-CACAAGCTTCGGG) | N/A | HBA2:c.268_280delCACAAGCTTCGGG | α2 | Causative | α-thalassaemia | NG_000006.1 | 34160 |
| 388 | CD 90 AAG>TAG | N/A | HBA2:c.271A>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34163 |
| 3572 | CD 90‐92 (-8bp): (‐AGCTTCGG) | N/A | HBA2:c.272_279delAGCTTCGG | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34164 |
| 389 | CD 93 GTG>GGG [Val>Gly] | Hb Bronte | HBA2:c.281T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34173 |
| 3080 | CD 94 (+21 bp duplication) | Hb SKMC | HBA2:c.283_300+3dup | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34175 |
| 3610 | CD 99 AAG>TAG [Lys>STOP] | N/A | HBA2:c.298A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 34190 |
| 391 | IVS II-2 GT>GA donor | N/A | HBA2:c.300+2T>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34194 |
| 3731 | IVS II-34 G>A | N/A | HBA2:c.300+34G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 34226 |
| 300 | -α3.7 (type I) (-α3.7) | N/A | NG_000006.1:g.34247_38050del | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34247 |
| 2430 | 203 bp deletion | N/A | NG_000006.1:g.34305_34507del203 | α2 | Causative | α-thalassaemia | NG_000006.1 | 34305 |
| 392 | IVS II-142 G>A | N/A | HBA2:c.301-1G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 34334 |
| 2220 | CD 101 CTA>CCA [Leu>Pro] | Hb Bishopstown | HBA2:c.305T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34339 |
| 394 | CD 103 CAC>CTC [His>Leu] | Hb Bronovo | HBA2:c.311A>T | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34345 |
| 2420 | CD 104 TGC>CGC [Cys>Arg] | Hb Iberia | HBA2:c.313T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34347 |
| 3056 | CD 104 TGC>AGC [Cys>Ser] | Hb Oegstgeest | HBA2:c.313T>A | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34347 |
| 396 | CD 104 TGC>TAC [Cys>Tyr] | Hb Sallanches | HBA2:c.314G>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34348 |
| 2436 | CD 107 GTG>G-G | Hb Lynwood | HBA2:c.323delT | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34357 |
| 3611 | CD 108 ACC>GCC [Thr>Ala] | N/A | HBA2:c.325A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 34359 |
| 4078 | CD 108 ACC>CCC [Thr>Pro] | N/A | HBA1:c.325A>C | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34359 |
| 397 | CD 108 ACC>AAC [Thr>Asn] | Hb Bleuland | HBA2:c.326C>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34360 |
| 398 | CD 109 (-C) | Hb Sciacca | HBA1:c.328delC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34362 |
| 399 | CD 109 CTG>CGG [Leu>Arg] | Hb Suan Dok | HBA2:c.329T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34363 |
| 401 | CD 110 GCC>GAC [Ala>Asp] | Hb Petah Tikva | HBA1:c.332C>A | HBA2:c.332C>A | α1 or α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34366 |
| 4068 | CD 112 CAC>-AC | N/A | HBA2:c.337delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34371 |
| 402 | CD 112/113 -C | N/A | HBA2:c.339delC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34373 |
| 404 | CD 113-116 (-12 bp) & CD 112 (C>G) | Hb Leida | HBA2:c.[339C>G;340_351delCTCCCCGCCGAG] | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34373 |
| 2527 | CD 114 (+CC) | N/A | HBA2:c.344_345dup | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34378 |
| 3140 | CD 114 CCC>CC- | N/A | HBA2:c.345delC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34379 |
| 405 | CD 116 GAG>TAG | N/A | HBA2:c.349G>T | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34383 |
| 2221 | CD 115 -GAGTTCACCCC [166 aa] | N/A | HBA2:c.349_359delGAGTTCACCCC | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34383 |
| 2023 | CD 117 TTC>TCC [Phe>Ser] | Hb Foggia | HBA2:c.353T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34387 |
| 2951 | CD 118 ACC>ATC [Thr>Ile] | Hb Cervantes | HBA2:c.356C>T | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34390 |
| 3862 | CD 125 (+C) | N/A | HBA2:c.376dupC | α2 | Causative | α-thalassaemia | NG_000006.1 | 34410 |
| 408 | CD 125 CTG>CCG [Leu>Pro] | Hb Quong Sze | HBA2:c.377T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34411 |
| 409 | CD 125 CTG>CGG [Leu>Arg] | Hb Plasencia | HBA2:c.377T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34411 |
| 3305 | CD 126 GCG>-CG | N/A | HBA2:c.379delG | α2 | Causative | α-thalassaemia | NG_000006.1 | 34413 |
| 2519 | CD 127 AAG>TAG [Lys>STOP] | N/A | HBA2:c.382A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 34416 |
| 3612 | CD 127 AAG>ATG [Lys>Met] | N/A | HBA2:c.383A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 34417 |
| 412 | CD 129 CTG>CCG [Leu>Pro] | Hb Utrecht | HBA2:c.389T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34423 |
| 3613 | CD 129 CTG>CGG [Leu>Arg] | N/A | HBA2:c.389T>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 34423 |
| 413 | CD 130 GCT>CCT [Ala>Pro] | Hb Sun Prairie | HBA2:c.391G>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34425 |
| 414 | CD 131 TCT>CCT [Ser>Pro] | Hb Questembert | HBA2:c.394T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34428 |
| 415 | CD 132 GTG>GGG [Val>Gly] | Hb Caen | HBA1:c.398T>G | HBA2:c.398T>G | α1 or α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34432 |
| 417 | CD 136 CTG>CCG [Leu>Pro] | Hb Bibba | HBA2:c.410T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34444 |
| 418 | CD 142 (TAA>CAA) >172aa | Hb Constant Spring | HBA2:c.427T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34461 |
| 419 | CD 142 (TAA>AAA) >172aa | Hb Icaria | HBA2:c.427T>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34461 |
| 421 | CD 142 (TAA>GAA) >172aa | Hb Seal Rock | HBA2:c.427T>G | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34461 |
| 420 | CD 142 TAA>TCA >172aa | Hb Koya Dora | HBA2:c.428A>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34462 |
| 422 | CD 142 (TAA>TAT) >172aa | Hb Paksé | HBA2:c.429A>T | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34463 |
| 2230 | -α3.7 (type II) | N/A | NG_000006.1:g.34478_38288del | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34478 |
| 2226 | 3'UTR +46 C>A | N/A | HBA2:c.*46C>A | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34509 |
| 3753 | 3'UTR +71 G>C | N/A | HBA2:c.*71G>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 34534 |
| 428 | 3'UTR -16 bp | N/A | HBA2:c.*74_*89delCCTTCCTGGTCTTTGA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34537 |
| 3733 | 3'UTR +82 G>A | N/A | HBA2:c.*82G>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 34545 |
| 4041 | 3.8 kb deletion | N/A | NC_000016.10:g.173682_177493del | α2, α1 | Causative | α-thalassaemia | NG_000006.1 | 34545 |
| 4111 | Poly A (AATAAA>AAΑΑΑ) | N/A | HBA2:c.*91delT | α2 | Causative | α-thalassaemia | NG_000006.1 | 34554 |
| 425 | Poly A (AATAAA>AATGAA) (αPolyA2) | N/A | HBA2:c.*92A>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34555 |
| 426 | Poly A (AATAAA>AATA--) | N/A | HBA2:c.*93_*94delAA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34556 |
| 424 | Poly A (AATAAA>AATAAG) (αPolyA1, αT-Saudi) | N/A | HBA2:c.*94A>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34557 |
| 427 | Poly A (AATAAA>AATAAC) | N/A | HBA2:c.*94A>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34557 |
| 3805 | Poly A (AATAAA>AATAAG);CD 94 (+21 bp duplication) | N/A | NG_000006.1:g.[34557A>G;37979_379996dup] | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34557 |
| 3734 | 3'UTR +98 T>C | N/A | HBA2:c.*98T>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 34561 |
| 2228 | 3'UTR +107 A>G (3' UTR +832 G>A) | N/A | HBA2:c.*107A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 34570 |
| 2231 | -α3.7 (type III) | N/A | NG_000006.1:g.34570_38381del | α2, α1, α3.7 hybrid | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34570 |
| 2263 | α-ZF | N/A | NC_000016.10:g.174046_192396del | α1 | Causative | α-thalassaemia | NG_000006.1 | 34909 |
| 303 | -α2.7 | N/A | NG_000006.1:g.36664_39364del2701 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 36664 |
| 302 | -α2.4 | N/A | NG_000006.1:g.36859_39252del | α1 | Causative | α-thalassaemia | NG_000006.1 | 36859 |
| 304 | -α3.5 | N/A | NG_000006.1:g.37464_40964del3501 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37464 |
| 3764 | -4 G>C | N/A | HBA1:c.-41C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37539 |
| 340 | CAP +22 T>C | N/A | HBA1:c.-16T>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37564 |
| 3735 | Cap +23 C>G | N/A | HBA1:c.-15C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37565 |
| 2203 | CAP +29 (G>C) | N/A | HBA1:c.-9G>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37571 |
| 341 | Init CD ATG>GTG | N/A | HBA1:c.1A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37580 |
| 3147 | Init CD ATG>AAG [Met>Lys] | N/A | HBA1:c.2T>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37581 |
| 3250 | Init CD ATG>A-G | N/A | HBA1:c.2delT | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
| 3719 | Init CD ATG>ACG [Met>Thr] | N/A | HBA1:c.2T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
| 3699 | CD 2 CTG>CCG [Leu>Pro] | Hb Kaiser West End | HBA1:c.8T>C | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37587 |
| 4006 | CD 7 AAG>A-G (g.188 (GenBank MK600512.1)) | N/A | HBA1:c.23delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37602 |
| 347 | CD 14 TGG>CGG [Trp>Arg] | Hb Evanston | HBA1:c.43T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37622 |
| 349 | CD 14 TGG>TAG [Trp>STOP] | N/A | HBA1:c.44G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37623 |
| 3395 | CD 16 AAG>TAG [Lys>STOP] | N/A | HBA1:c.49A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37628 |
| 2205 | CD 20 +T | N/A | HBA1:c.62_63insT | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37641 |
| 3266 | CD 22 GGC>GGT [Gly>Gly] | N/A | HBA1:c.69C>T | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37648 |
| 3267 | CD 23 GAG>TAG | N/A | HBA1:c.70G>T | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37649 |
| 3942 | CD 26 GCG>GGG [Ala>Gly] | N/A | HBA1:c.80C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37659 |
| 3032 | CD 28 GCC>TCC [Ala>Ser] | N/A | HBA1:c.85G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37664 |
| 3030 | CD 30 GAG>TAG | N/A | HBA1:c.91G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37670 |
| 358 | IVS I-1 AGGT>AGAT donor | N/A | HBA1:c.95+1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37675 |
| 3049 | IVS I-1 AGGT>AGCT donor | N/A | HBA1:c.95+1G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37675 |
| 2204 | IVS I-4 A>G | N/A | HBA1:c.95+4A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37678 |
| 361 | IVS I-5 G>A | N/A | HBA1:c.95+5 G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37679 |
| 3431 | IVS I-38 C>T | N/A | HBA1:c.95+38C>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37712 |
| 2212 | IVS I-45 G>C | N/A | HBA1:c.95+45G>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37719 |
| 2451 | IVS I-116 A>G | N/A | HBA1:c.96-2A>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37790 |
| 364 | IVS I-117 GCAGGA>GCAAGA acceptor | N/A | HBA1:c.96-1G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37791 |
| 3251 | IVS I-117 GCAGGA>GCACGA acceptor | N/A | HBA1:c.96-1G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37791 |
| 2381 | CD 32 ATG>AAG [Met>Lys] (Hb Chao Pra Ya) | Hb Queens Park | HBA1:c.98T>A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37794 |
| 2986 | CD 32 ATG>ACG [Met>Thr] | Hb Bridlington | HBA1:c.98T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37794 |
| 3252 | CD 32 ATG>ATA [Met>Ile] | Hb Amsterdam-A1 | HBA1:c.99G>A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37795 |
| 370 | CD 37 -CCC [-Pro) | Hb Heraklion | HBA1:c.112_114delCCC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37808 |
| 4077 | CD 37 CCC>CC- | N/A | HBA1:c.114del | α1 | Causative | α-thalassaemia | NG_000006.1 | 37810 |
| 371 | CD 39 (-ACC) [-Thr] | Hb Taybe | HBA1:c.118_120del | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37814 |
| 3403 | CD 39 +A | N/A | HBA2:c.118_119insA | α2 | Causative | α-thalassaemia | NG_000006.1 | 37814 |
| 3856 | CD 40-41 (-AAGACC) | N/A | HBA1:c.121_126delAAGACC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37817 |
| 2468 | CD 44 +C | N/A | HBA1:c.134_135insC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37830 |
| 375 | CD 51-55 (-13 bp deletion) | N/A | HBA1:c.155_167delGCTCTGCCCAGGT | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37851 |
| 4009 | CD53 GCC>ACC [Ala>Thr] (g.443 (GenBank MK600512.1)) | N/A | HBA1:c.160G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 37856 |
| 2417 | CD 54 CAG>CGG [Gln>Arg] | Hb Shimonoseki | HBA1:c.164A>G | α1, α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | 37860 |
| 3280 | CD 59 GGC>CGC [Gly>Arg] | Hb Zurich-Albisrieden | HBA1:c.178G>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37874 |
| 378 | CD 59 GGC>GAC [Gly>Asp] | Hb Adana | HBA1:c.179G>A | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37875 |
| 380 | CD 61 (-AAG) | Hb Clinic | HBA1:c.184_186del | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37880 |
| 3334 | CD 61 AAG>TAG [Lys>STOP] | N/A | HBA1:c.184A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37880 |
| 3717 | CD 61 AAG>-AG | N/A | HBA1:c.184del | α1 | Causative | α-thalassaemia | NG_000006.1 | 37880 |
| 381 | CD 62 (-GTG) [-Val] | Hb Aghia Sophia | HBA1:c.187_189del | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37883 |
| 382 | CD 62 GTG>-TG | Hb Champaign | HBA1:c.187delG | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37883 |
| 2429 | CD 62 GTG>GCG [Val>Ala] | N/A | HBA1:c.188T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37884 |
| 2347 | CD 62 -G | N/A | HBA1:c.189delG | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37885 |
| 383 | CD 64-74 (-33 bp) | N/A | HBA1:c.193_225del33 | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37889 |
| 3788 | CD 65 GCG>CCG [Ala>Pro] | Hb Maruchi | HBA1:c.196G>C | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37892 |
| 3373 | CD 67 ACC>-CC | N/A | HBA1:c.202delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37898 |
| 4007 | CD 70 GTG>TTG [Val>Leu] (g.494 (GenBank MK600512.1)) | N/A | HBA1:c.211G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37907 |
| 385 | CD 74/75 -GAC [- Asp] | N/A | HBA1:c.212_214delGAC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37908 |
| 4008 | CD 72 CAC>CA- (g.502 (GenBank: MK600512.1)) | N/A | HBA1:c.219delC | α1 | Causative | α-thalassaemia | NG_000006.1 | 37915 |
| 3326 | CD 73 GTG>G-G | N/A | HBA1:c.221delT | α1 | Causative | α-thalassaemia | NG_000006.1 | 37917 |
| 3848 | -α4.2-Q-Thailand | N/A | N/A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37919 |
| 386 | CD 78 -C | N/A | HBA1:c.237delC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37933 |
| 2219 | CD 81 -T | N/A | HBA2:c.244delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37940 |
| 387 | CD 82-84 (-9 bp) | N/A | HBA1:c.247_255del | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37943 |
| 3861 | CD 87 (-A) | N/A | HBA1:c.263delA | α1 | Causative | α-thalassaemia | NG_000006.1 | 37959 |
| 390 | CD 93-99 (+21 bp) | N/A | HBA1:c.280_300ins21 | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37976 |
| 3852 | CD 93 GTG>ATG [Val>Met] | Hb Qingcheng | HBA1:c.280G>A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37976 |
| 2539 | IVS II-3 (+21bp) | Hb SKMC | HBA1:c.283_300+3dup | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37979 |
| 4093 | CD 95 (-C) | Hb Campania | HBA1:c.287delC | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37983 |
| 2467 | CD 99 AAG>TAG | N/A | HBA1:c.298A>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 37994 |
| 3031 | IVS II-1 G>A | N/A | HBA1:c.300+1G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 37997 |
| 3736 | IVS II-55 G>T | N/A | HBA1:c.300+55G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 38051 |
| 3737 | IVS II-58 G>A | N/A | HBA1:c.300+58G>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 38054 |
| 4005 | IVS II-96 G>C (g.679 (GenBank MK600512.1)) | N/A | HBA1:c.300+96G>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 38092 |
| 4042 | IVS II-2 (-8 bp, +1 bp) | N/A | HBA1:c.301-31_301-24delinsG | α1 | Causative | α-thalassaemia | NG_000006.1 | 38115 |
| 3738 | IVS II-141 T>C | N/A | HBA1:c.301-9T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 38137 |
| 2222 | IVS II-147 C>G | N/A | HBA1:c.301-3C>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38143 |
| 393 | IVS II-148 A>G consensus | N/A | HBA1:c.301-2A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38144 |
| 395 | CD 104 TGC>AGC [Cys>Ser] | Hb Oegstgeest | HBA1:c.313T>A | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38158 |
| 2340 | CD 104 TGC>TGG [Cys>Trp] | Hb Donnington | HBA1:c.315C>G | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38160 |
| 2224 | CD 110-114 (-13 bp) | N/A | HBA1:c.333_345delCGCCCACCTCCCC | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38178 |
| 3864 | CD 116 GAG>TAG [Glu>Stop] | N/A | HBA1:c.349G>T | α1 | Causative | α-thalassaemia | NG_000006.1 | 38194 |
| 724 | CD 117/118 +ATC [+Ile] | Hb Phnom Penh | HBA1:c.354_355insATC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38199 |
| 406 | CD 119 CCT>TCT [Pro>Ser] (Hb Bemalda P, Hb Bernalda) | Hb Groene Hart | HBA1:c.358C>T | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38203 |
| 407 | CD 123 GCC >CCC [Ala>Pro] | Hb Voreppe | HBA1:c.370G>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38215 |
| 411 | CD 129 CTG>CCG [Leu>Pro] | Hb Tunis-Bizerte | NM_000558.3(HBA1):c.389T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38234 |
| 3281 | CD 130 (+T) | Hb Sichuan | HBA1:c.393_394insT | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38238 |
| 416 | CD 131 (+T) >175aa | Hb Pak Num Po | HBA1:c.396dup | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38241 |
| 4084 | CD 133-135 (-7 bp, -GCACCGT) | N/A | HBA1:c.401_407del | α1 | Causative | α-thalassaemia | NG_000006.1 | 38246 |
| 3302 | 3'UTR +46 C>A | N/A | HBA1:c.*46C>A | α1 | Causative | α-thalassaemia | NG_000006.1 | 38320 |
| 2225 | Poly A (G>A) AATAAAG>AATAAAA | N/A | HBA1:c.*96G>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 38370 |
| 3739 | TTS +23 (+T) | N/A | HBA1:c.*134_*135insT | α1 | Causative | α-thalassaemia | NG_000006.1 | 38408 |
| 4065 | CD 124 (-C) | N/A | HBB:c.374delC | β | Causative | α-thalassaemia | NG_000007.3 | 71948 |
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IthaGenes was last updated on 2024-11-20 13:24:07