LP19717-5
HBA1 gene
Active
Description
The HBA1 gene (hemoglobin, alpha 1) [HGNC Gene ID:4823] is located on chromosome 16p13.3. The 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] [NCBI Gene ID:3039] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- HBA1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- HBA1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | HBA1 基因 Synonyms: 地中海贫血 alpha; |
| fr-CA | French (Canada) | Gène HBA1 |
| et-EE | Estonian (Estonia) | HBA1 geen |
| es-ES | Spanish (Spain) | Gen HBA1 |
| it-IT | Italian (Italy) | HBA1, gene Synonyms: Gene HBA1 |
| tr-TR | Turkish (Turkey) | HBA1 geni |
| ru-RU | Russian (Russian Federation) | HBA1 ген |
| nl-NL | Dutch (Netherlands) | HBA1-gen Synonyms: HBA1 gen |
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