HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. (9th October 2012)

• Record Type: Journal Article
• Authors: Menzel, Stephan; Garner, Chad; Rooks, Helen; Spector, Tim D.; Thein, Swee Lay
• Is Part Of: British journal of haematology. Volume 160:Number 1(2013:Jan.)
• Page Start: 101
• Page End: 105
• Publication Date: 2012-10-09
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.12084
• Languages: English
• ISSNs: 0007-1048

Abstract

<abstract abstract-type="main" id="bjh12084-abs-0001"> <title>Summary</title> <p>Using a genome‐wide association study, we found that common inter‐individual differences in haemoglobin A₂ (HbA₂, α₂δ₂) levels are largely governed by genetic factors (42% of variability). The influence of age (1%) and sex (4%) was small. HbA₂ levels were influenced by two loci: the <italic>HBS1L</italic>‐<italic>MYB</italic> locus on chromosome 6q, which has been shown to have pleiotropic effects on other haematological traits; and a second locus surrounding <italic>HBB</italic>, the gene encoding β‐globin. Our results suggest that HbA₂ levels in adults are influenced by two different biological processes: one via kinetics of erythropoiesis, and the other, via competition between <italic>HBB</italic> and <italic>HBD</italic> activity.</p> </abstract>