rs281864502
This variant is located in the HBA1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶A Czechoslovakian teenager with Hb E-β∘-thalassemia [IVS-I-1 (G → A)] complicated by the presence of an α-globin gene triplicationCase reportIndrak K. et al.(1991)· Annals of Hematology
A Czechoslovakian teenager with severe transfusion-dependent hemolytic anemia carries three inherited hemoglobin disorders: Hb E (β26 Glu→Lys), beta-thalassemia IVS-I-1 (G→A), and an alpha-globin gene triplication. The combination of these variants creates severe alpha-to-non-alpha globin chain imbalance. Similar cases with a comparable genotype but IVS-I-1 (G→T) mutation were identified in three Malay patients.
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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