rs1596573335
This variant is located in the HBA1 gene.
▶ClinVar annotation
not specified; Erythrocytosis, familial, 7; Methemoglobinemia, alpha type;Hemoglobin H disease;Heinz body anemia;alpha Thalassemia;Erythrocytosis, familial, 7
View on ClinVar →About HBA1
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]
View all HBA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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