Estudo dos haplótipos da anemia falciforme e suas relações com as origens étnicas da população negra no Ceará

Abstract

The sickle cell anemia is one the most important hereditary haematology disorder which affect a great number of the population in the whole world. Researches done to elucidate its genetic nature gave origin to a new branch of Science that today is called molecular biology. The discovery of the 0S mutation polymorphisms defíned fíve main illness haplotypes and made it possible to understand the clinic variation found in different regions. These haplotypes are identifíed by names and numbers: CAR (20), Benin (19), Senegal (3), Asian (31), Cameroon type (17). The present work studied the 0S mutation haplotypes in 22 patients bom in Ceará and related the molecular analysis results to the historical records found on the origin of the black population of the former State. The foliowing laboratory analysis were made: Hb, Ht, VCM, HCM, CHCM and Hb F concentrations. It was also made the study of the haplotypes by analysis of the polymorphic restriction sites: Hind III-yG, Hind III-yA, Hinc II-V|/(3, Hinc II-3’q/0, Hinc 11-3’0, Ava II 0IVS2 and Hinf 1-5’0. The hematology results followed the already know , with exception of a macrocitosis (VCM > 100 fL) that presented rates above refence values. In relation to the haplotypes, the subtypes Benin and CAR was the most frequently noticed (43% and 32%) and the result is similar to the one forend in Salvador-BA. Confronting the historical dates, we carne to the conclusion that molecular analysis seems to prove the origin of the negro population of Ceará, which comes from Angola, Congo Mozambique and Gold Coast.