HbA2 levels in normal adults are influenced by two distinct genetic mechanisms

Stephan Menzel, Chad Garner, Helen Rooks, Tim D. Spector, Swee Lay Thein*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

26 Citations (Scopus)

Abstract

Using a genome-wide association study, we found that common inter-individual differences in haemoglobin A2 (HbA2, alpha 2 delta 2) 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 HBS1L-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 beta-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 HBB and HBD activity.

Original languageEnglish
Pages (from-to)101-105
Number of pages5
JournalBritish Journal of Haematology
Volume160
Issue number1
DOIs
Publication statusPublished - Jan 2013

Keywords

  • haemoglobin regulation
  • thalassaemias
  • globin genes
  • genetics
  • BETA-THALASSEMIA MUTATIONS
  • FETAL-HEMOGLOBIN
  • HBS1L-MYB
  • REGION

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