GeneID: 11



Names

Common Name: α1 or α2 Type: Gene
Chromosome: 16 (NC_000016.10) Locus: NG_000006.1 (α-locus)
HUGO Symbol: HBA1 or HBA2 Full Name: N/A
Exons: 3 Introns: 2

Description:
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5’-HBZ2-ΨHBZ1-ΨHBA2-ΨHBA1-HBA2-HBA1-θ-3’. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated region and the introns, but differ significantly over the 3' untranslated region. Because of the identical coding sequences, it is not clear on which of the two HBA genes mutations are located. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total haemoglobin; alpha chains combine with delta chains to constitute HbA2, which together with HbF (fetal haemoglobin) makes up the remaining 3% of adult haemoglobin. Alpha thalassaemias result from deletions of one or both of the HBA2 and HBA1 genes; some non-deletion alpha thalassaemias have also been reported. Three normal alpha genes give a silent carrier state. Two normal alpha genes result in microcytosis (so-called heterozygous alpha-thalassaemia). One normal alpha gene results in microcytosis and haemolysis. No normal alpha genes result in 'homozygous alpha-thalassaemia' manifested as fatal hydrops fetalis.

Synonyms: HBH

Comments:
N/A

External Links

Sequence Viewer

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Publications / Origin

  1. Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ, A review of the molecular genetics of the human alpha-globin gene cluster., Blood , 73(5), 1081-104, 1989 PubMed
  2. Wilkie AO, Lamb J, Harris PC, Finney RD, Higgs DR, A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n., Nature, 346(6287), 868-71, 1990 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 11:25:13 (Show full history)


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