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Fetal hemoglobin (HbF, α(2)γ(2)) is a major contributor to the remarkable phenotypic heterogeneity of sickle cell anemia (SCA). Genetic variation at 3 principal loci (HBB cluster on chromosome 11p, HBS1L-MYB region on chromosome 6q, and BCL11A on chromosome 2p) have been shown to influence HbF levels and disease severity in β-thalassemia and SCA. Previous studies in SCA, however, have been restricted to populations from the African diaspora, which include multiple genealogies. We have investigated the influence of these 3 loci on HbF levels in sickle cell patients from Tanzania and in a small group of African British sickle patients. All 3 loci have a significant impact on the trait in both patient groups. The results suggest the presence of HBS1L-MYB variants affecting HbF in patients who are not tracked well by European-derived markers, such as rs9399137. Additional loci may be identified through independent genome-wide association studies in African populations.

Original publication

DOI

10.1182/blood-2010-08-302703

Type

Journal article

Journal

Blood

Publication Date

27/01/2011

Volume

117

Pages

1390 - 1392

Keywords

Adolescent, Adult, African Continental Ancestry Group, Anemia, Sickle Cell, Child, Child, Preschool, European Continental Ancestry Group, Female, Fetal Hemoglobin, Genome-Wide Association Study, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Tanzania, United Kingdom, Young Adult