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H b A 2 levels in normal adults are influenced by two distinct genetic mechanisms
Author(s) -
Menzel Stephan,
Garner Chad,
Rooks Helen,
Spector Tim D.,
Thein Swee Lay
Publication year - 2013
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12084
Subject(s) - locus (genetics) , biology , genetics , gene , erythropoiesis , medicine , anemia
Summary Using a genome‐wide association study, we found that common inter‐individual differences in haemoglobin A 2 ( H b A 2 , α 2 δ 2 ) levels are largely governed by genetic factors (42% of variability). The influence of age (1%) and sex (4%) was small. Hb A 2 levels were influenced by two loci: the HBS 1L ‐ MYB locus on chromosome 6q, which has been shown to have pleiotropic effects on other haematological traits; and a second locus surrounding HBB , the gene encoding β‐globin. Our results suggest that HbA 2 levels in adults are influenced by two different biological processes: one via kinetics of erythropoiesis, and the other, via competition between HBB and HBD activity.