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Research Paper | Hematology | Mauritania | Volume 7 Issue 2, February 2018
Modulator Effect of XmnI Polymorphism Concerning 50 Mauritanian Sickle Cell Disease Patients
Ghaber Sidi Mohamed | Salem Mohamed Lemine | Kleib A-S | F. Najjar | Aminetou Mohamed
Abstract: The present study shows that the XmnI polymorphism (rs7482144) at -158 C T of G gene is well associated with increased expression of HbF among sickle cell homozygotes in Mauritania. The prevalence of homozygous and heterozygous XmnI polymorphism is respectively of 36 % and 34 %, whereas negative individuals for this polymorphism are of 30 % in the Mauritania population. This XmnI polymorphism induces increased HbF synthesis. The most found haplotype in Mauritania is the Senegalese type (77.7 %) which was described as a relative protector by the presence of HbF followed by the beninese haplotype (8.8 %), the Arab-Indian (5.5 %), the Bantu (4.4 %) and the two atypical haplotypes 1 and 2 (2.2 and 1.1 %) reflecting the multiethnic character of Mauritania.
Keywords: XmnI, sickle cell disease, Mauritania
Edition: Volume 7 Issue 2, February 2018,
Pages: 1384 - 1387