Modulator Effect of XmnI Polymorphism Concerning 50 Mauritanian Sickle Cell Disease Patients

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.