Genetics of Fetal Hemoglobin in Tanzanian and British Patients with Sickle Cell Anemia

Overview

Journal Blood

Publisher Elsevier

Specialty Hematology

Date 2010 Nov 12

PMID 21068433

Citations 52

Authors

Julie Makani

Stephan Menzel

Siana Nkya

Sharon E Cox

Emma Drasar

Deogratius Soka

Albert N Komba

Josephine Mgaya

Helen Rooks

Nisha Vasavda

Gregory Fegan

Charles R Newton

Martin Farrall

Swee Lay Thein

Affiliations

Soon will be listed here.

Abstract

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.

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