IthaID: 424

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	Poly A (AATAAA>AATAAG)	HGVS Name:	HBA2:c.*94A>G
Hb Name:	N/A	Protein Info:	α2 nt 819 A>G

Context nucleotide sequence:
CCGGCCCTTCCTGGTCTTTGAATAA [A/C/G] GTCTGAGTGGGCGGCAGCCTGTGTG (Strand: +)

Also known as: αPolyA1, αT-Saudi

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

dbSNP

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	α-thalassaemia
Allele Phenotype:	α+/α0
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34557
Size:	1 bp
Located at:	α2
Specific Location:	Poly(A)

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	RNA cleavage - Poly(A) signal (mRNA Processing)
Ethnic Origin:	Arab, Middle East, Mediterranean
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

Higgs DR, Goodbourn SE, Lamb J, Clegg JB, Weatherall DJ, Proudfoot NJ, Alpha-thalassaemia caused by a polyadenylation signal mutation., Nature , 306(5941), 398-400, 1983 PubMed
Whitelaw E, Proudfoot N, Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end processing in the human alpha 2 globin gene., EMBO J. , 5(11), 2915-22, 1986 PubMed
Thein SL, Wallace RB, Pressley L, Clegg JB, Weatherall DJ, Higgs DR, The polyadenylation site mutation in the alpha-globin gene cluster., Blood , 71(2), 313-9, 1988 PubMed
Fei YJ, Oner R, Bözkurt G, Gu LH, Altay C, Gurgey A, Fattoum S, Baysal E, Huisman TH, Hb H disease caused by a homozygosity for the AATAAA-->AATAAG mutation in the polyadenylation site of the alpha 2-globin gene: hematological observations., Acta Haematol. , 88(2), 82-5, 1992 PubMed
Adekile AD, Gu LH, Baysal E, Haider MZ, al-Fuzae L, Aboobacker KC, al-Rashied A, Huisman TH, Molecular characterization of alpha-thalassemia determinants, beta-thalassemia alleles, and beta S haplotypes among Kuwaiti Arabs., Acta Haematol. , 92(4), 176-81, 1994 PubMed
Viprakasit V, Green S, Height S, Ayyub H, Higgs DR, Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of alpha thalassaemia (--MED/(alpha)TSaudi(alpha))., Br. J. Haematol. , 117(3), 759-62, 2002 PubMed
Baysal E, α-Thalassemia syndromes in the United Arab Emirates., Hemoglobin , 35(5), 574-80, 2011 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2020-10-02 10:23:44 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2014-04-08 17:49:38	The IthaGenes Curation Team	Reviewed.
4	2014-10-20 10:53:23	The IthaGenes Curation Team	Reviewed.
5	2014-10-20 11:02:21	The IthaGenes Curation Team	Reviewed.
6	2014-10-21 12:32:48	The IthaGenes Curation Team	Reviewed. Publication list updated.
7	2020-10-02 10:23:44	The IthaGenes Curation Team	Reviewed. Name edits

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