Hematological and cytogenetic factors modulating the severity of the Sickle-cell disease at the University Hospital Sourô Sanou

IntroductionSickle cell disease is a monogenic disease with variables clinicals manifestations and various complications. This variability is related to the phenotype, the intracellular hemoglobin concentration, the importance of fetal hemoglobin, the quality of the Therapeutic outlet, and association with others pathologies: membrane abnormalities, G6PD’s deficiency, Gilbert ‘s disease etc. ...it is a prospective study of twelve major sickle cell disease affected children on hematological and genetic factors modulating the severity of their illness.Materials and Methods  Twelve major sickle cell disease affected children were included in this study. The following tests were made for each of them: -A full blood count with manual blood smears reading.-Identification of their beta's Haplotypes by RFLP followed by PCR.-A search of the mutation of the sixth codon of the beta gene and a search of rearrangements of alpha locus were executed.The most common factors influencing the synthesis of fetal hemoglobin in the African context were sought by molecular biology. They were: BCL11A (rs10189857, rs1427407) HMIP (rs9399137) Xmn1 (rs7482144). Some specific mutations responsible for the disease of Gilbert and G6PD deficiency negatively modulate the evolution of sickle cell disease were studied by molecular biology aussi. ResultsThe full blood counts with blood smear revealed regenerative microcytic hypochromic: anemia; aplastic microcytic hypochromic anemia and regenerative normochromic normocytic anemia   The Giants' polynuclears; larges platelets and even macropolycytes probably related to a deficiency in folic acid.The attendance of hypercytoses (Polynucleosis, thrombocytosis, hyperreticulocytose) and erythroblastosis are amenable to treatment with hydroxyure.The presence of Howell Jolly's body witness functional asplenia, mononucleosis and trophozoite of Plasmodium means that the anti-infection prevention must be rigorous.The beta loci Genotyping showed: six compounds heterozygous S / C with five Haplotypes Benin / Cameroon and one haplotype Senegal / Cameroon; six homozygous s / s including four  Haplotypes Benin / Benin, two Haplotypes Benin / Senegal.No patient has alone three mutations (BCL11A, HMIP, and Xmn1) support for synthesis of fetal hemoglobin. Four patients have α-3, 7 type of thalassemia .For G6PD’s deficiency, a hemizygous A- and a conductor A- were diagnosed. The research for favorable mutations of UGTA1 to Gilbert's disease found three cases. ConclusionSickle cell disease is modulated by several genetic factors that it is useful to know for adequate therapeutic management.