Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia.


Makani, J; Menzel, S; Nkya, S; Cox, SE; Drasar, E; Soka, D; Komba, AN; Mgaya, J; Rooks, H; Vasavda, N; Fegan, G; Newton, CR; Farrall, M; Thein, SL; (2010) Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. Blood, 117 (4). pp. 1390-2. ISSN 0006-4971 DOI: https://doi.org/10.1182/blood-2010-08-302703

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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.<br/>

Item Type: Article
Faculty and Department: Faculty of Epidemiology and Population Health > Dept of Population Health (2012- ) > Dept of Nutrition and Public Health Interventions Research (2003-2012)
Faculty of Epidemiology and Population Health > Dept of Population Health (2012- )
PubMed ID: 21068433
Web of Science ID: 286623400038
URI: http://researchonline.lshtm.ac.uk/id/eprint/1868

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