Journal article
The genetics of hemoglobin A2 regulation in sickle cell anemia
Abstract
Hemoglobin A2 , a tetramer of α- and δ-globin chains, comprises less than 3% of total hemoglobin in normal adults. In northern Europeans, single nucleotide polymorphisms (SNPs) in the HBS1L-MYB locus on chromosome 6q and the HBB cluster on chromosome 11p were associated with HbA2 levels. We examined the genetic basis of HbA2 variability in sickle cell anemia using genome-wide association studies. HbA2 levels were associated with SNPs in the …
Authors
Griffin PJ; Sebastiani P; Edward H; Baldwin CT; Gladwin MT; Gordeuk VR; Chui DHK; Steinberg MH
Journal
American Journal of Hematology, Vol. 89, No. 11, pp. 1019–1023
Publisher
Wiley
Publication Date
November 2014
DOI
10.1002/ajh.23811
ISSN
0361-8609
Fields of Research (FoR)
Medical Subject Headings (MeSH)
Black or African AmericanAge FactorsAnemia, Sickle CellAsian PeopleCarrier ProteinsChromosomes, Human, Pair 11Chromosomes, Human, Pair 6Cohort StudiesEuropeFemaleFetal HemoglobinGTP-Binding ProteinsGene Expression RegulationGenes, mybGenome-Wide Association StudyGenotypeHSP70 Heat-Shock ProteinsHemoglobin A2Hemoglobin, SickleHumansMaleNuclear ProteinsPeptide Elongation FactorsPhenotypePolymorphism, Single NucleotideRepressor ProteinsTrans-ActivatorsWhite Peoplealpha-Thalassemiabeta-Globinsdelta-Globinsgamma-Globins