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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia
Blood, Volume 117, No. 4, Year 2011
Notification
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Description
Fetal hemoglobin (HbF, α2γ2) 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. © 2011 by The American Society of Hematology.
Authors & Co-Authors
Makani, Julie B.
Unknown Affiliation
Menzel, Stephan
Unknown Affiliation
Nkya, Siana
Unknown Affiliation
Cox, Sharon E.
Unknown Affiliation
Drasar, Emma
Unknown Affiliation
Soka, Deogratias
Unknown Affiliation
Komba, Albert N.
Unknown Affiliation
Mgaya, Josephine A.
Unknown Affiliation
Rooks, Helen
Unknown Affiliation
Vasavda, Nisha
Unknown Affiliation
Fegan, Greg
Unknown Affiliation
Newton, Charles R.J.C.
Unknown Affiliation
Farrall, Martin
Unknown Affiliation
Thein, Swee Lay
Unknown Affiliation
Statistics
Citations: 101
Authors: 14
Affiliations: 10
Identifiers
Doi:
10.1182/blood-2010-08-302703
ISSN:
00064971
Research Areas
Genetics And Genomics
Health System And Policy
Study Locations
Tanzania