The HBA1 gene homepage
| General information |
| Gene symbol |
HBA1 |
| Gene name |
hemoglobin subunit alpha 1 |
| Chromosome |
16 |
| Chromosomal band |
p13.3 |
| Imprinted |
Unknown |
| Genomic reference |
NG_000006.1 |
| Transcript reference |
NM_000558.3 |
| Associated with diseases |
abnormal hemoglobin, alpha-thal, HbH, WD |
| Citation reference(s) |
- |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
46 |
| Unique public DNA variants reported |
45 |
| Individuals with public variants |
3 |
| Hidden variants |
- |
| Notes |
he human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] |
| Date created |
February 02, 2018 |
| Date last updated |
April 27, 2019 |
| Version |
HBA1:190427 |
Active transcripts
| Copyright & disclaimer |
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