rs35203445
This is a variant in the HBA1 gene that changes a leucine to an arginine.
▶ClinVar annotation
HEMOGLOBIN OGI; HEMOGLOBIN QUEENS
View on ClinVar →▶Research that mentions this SNP (1)
▶Hemoglobin queens: α34 (B15) Leu‐Arg structural and functional properties and its association with Hb ECase reportMoo-Penn WF et al.(1982)· American Journal of Hematology
This paper describes Hemoglobin Queens (α34 Leu-Arg), a novel hemoglobin variant found in a Vietnamese boy in association with Hemoglobin E. The variant was characterized through peptide mapping, amino acid sequencing, and functional analysis. Functional studies showed normal oxygen equilibrium properties and cooperativity both with and without allosteric effectors (DPG, IHP), demonstrating that Hemoglobin Queens does not cause abnormal hemoglobin function despite its structural substitution at the α1β1 contact site.
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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