Hemoglobin--alpha locus 1

Preferred Label : Hemoglobin--alpha locus 1;

Symbol : HBA1;

CISMeF acronym : HBA1;

Type : Gene;

Alternative titles and symbols : 3-prime alpha-globin gene; Minor alpha-globin locus;

Description : The alpha and beta loci determine the structure of the 2 types of polypeptide chains in the tetrameric adult hemoglobin, Hb A, alpha-2/beta-2. The alpha locus also determines a polypeptide chain, the alpha chain, in fetal hemoglobin (alpha-2/gamma-2), in hemoglobin A2(alpha-2/delta-2), and in embryonic hemoglobin (alpha-2/epsilon-2). The number of normal alpha genes (3, 2, 1 or none) in Asian cases of alpha-thalassemia (604131) results in 4 different alpha-thalassemia syndromes (Kan et al., 1976). Three normal alpha genes gives a silent carrier state. Two normal alpha genes results in microcytosis (so-called heterozygous alpha-thalassemia). One normal alpha gene results in microcytosis and hemolysis (so-called Hb H disease, 613978). No normal alpha gene results in 'homozygous alpha-thalassemia' manifested as fatal hydrops fetalis.;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Decreased heme-heme interaction (e.g. Hb Kanagawa 141800.0169); Increased oxygen affinity (e.g. Hb Nunobiki 141800.0109); Reduced oxygen affinity (e.g. Hb Thionville 141800.0168); Decreased reversible oxygen-binding capacity (e.g. Hb L (Bombay) 141800.9999);

Ensembl ID : ENSG00000206172;

Prefixed ID : *141800;

Details

Origin ID

141800;

UMLS CUI

C1415477;

Automatic exact mappings (from CISMeF team)
- Glycated Hemoglobin [MeSH Descriptor]
- HBA1 Gene [NCIt concept]
- HBA1 gene [LOINC component]
- HBA1 wt Allele [NCIt concept]
- Hemoglobin A1c [LOINC component]
- hemoglobin subunit alpha 1 [HGNC gene]
Currated CISMeF NLP mapping
- hemoglobin subunit alpha 1 [ORDO Gene]
HGNC gene
- hemoglobin subunit alpha 1 [HGNC gene]
NCIt concept(s)
- HBA1 Gene [NCIt concept]
- HBA1 wt Allele [NCIt concept]
- Hemoglobin Subunit Alpha [NCIt concept]
ORDO concept(s)
- hemoglobin subunit alpha 1 [ORDO Gene]
Phenotypes related
- Alpha-thalassemia [OMIM Phenotype]
- Erythrocytosis, familial, 7 [OMIM Phenotype]
- Heinz body anemias [OMIM Phenotype]
- Hemoglobin h disease [OMIM Phenotype]
- Methemoglobinemia, alpha type [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HBA1 Gene [NCIt concept]
- HBA1 gene [LOINC component]
- hemoglobin subunit alpha 1 [ORDO Gene]
- hemoglobin subunit alpha 1 [HGNC gene]

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