Gene: HBA1

Alternate names for this Gene: ECYT7|HBA-T3|HBH|METHBA

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: hemoglobin subunit alpha 1

Type of Gene: protein-coding

rs112460909 in HBA1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs112128183 in HBA1 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs148228241 in HBA1 gene and Hemoglobin A measurement PMID 31675503 2019 Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.

rs2858942 in HBA1 gene and Hemoglobin measurement PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.