Determinação de haplótipos do gene beta S em pacientes com anemia falciforme
Abstract Haplotypes linked to the sS gene represent patterns of DNApolymorphisms on chromosome 11 of individuals with the sS gene.The analysis of haplotypes, in addition to being an important sourcefor anthropological studies about the ethnic origin of a population,contribute to a better understanding of changes in the severity ofsickle cell anemia. The aim of the present study was to determinesS haplotypes in a group of patients with sickle cell anemia treatedat the Hemocentro Dalton Barbosa Cunha (Hemonorte) in Natal,Brazil and Centro de Oncologia e Hematologia de Mossoro, Brazil.Blood samples were obtained from 53 non-related patients (27males and 26 femeles) aged between 3 months and 61 years.Laboratory analysis consisted of the following: red blood cell indices,reticulocyte count, hemoglobin electrophoresis at alkaline pH,measurement of hemoglobin A2 and Fetal hemoglobin, solubilitytest and molecular analysis to determine sS gene haplotypes. DNAsamples were extracted by illustra blood genomicPrep Mini Spinkit and the sS gene haplotypes were determined by polymerasechain reaction-restriction fragment length polymorphism (PCR-RFLP), using the Xmn I, Hind III, Hinc II and Hinf I restriction