Avaliação da incidência de hemoglobinopatias em pacientes atendidos no laboratório piloto de análises clínicas da Escola de Farmácia – UFOP.

Hemoglobinopathies are a genetic diseases group, characterized by either reduced synthesis of one or more normal globin chains or the synthesis of a structurally abnormal globin chain. Among the hemoglobin structural variants, the most common are the S and C hemoglobin, both resulting from an amino acid substitution in beta chain. Studies in Brazil show the high prevalence of HbS and HbC heterozygotes. The frequency of these variants in our population is very variable because it relates to racial groups in each region. The population of the city of Ouro Preto, in 1698, motivated by the pursuit of gold, was composed mainly of Portuguese and African slaves, a context that favored miscegenation between peoples. Considering that these groups have genes for abnormal hemoglobins with varying frequencies, is expected to find these genetic alterations in our population. The present study aimed at assessing the frequency of abnormal hemoglobins in patients seen by the Pilot Laboratory of Clinical Analyses (LAPAC) School of Pharmacy, Federal University of Ouro Preto (UFOP). From August 2008 to September 2010 were screened 943 patients of both sexes and different age groups for frequency of hemoglobin variants, with a focus on sickle cell hemoglobin, also known as hemoglobin S. The diagnosis was made through the implementation of hemoglobin electrophoresis at alkaline pH and positive samples were confirmed by some variant of low-pressure liquid chromatography (LPLC) and solubility test. The prevalence of structural variants of hemoglobin was 6.6% and 4.88% for sickle cell trait (HbAS), 1.59% for the AC genotype and 0.11% for genotype SC. Homozygous were not detected for any hemoglobins variant types. The results were higher than those found in the states of Pernambuco, Rio de Janeiro, Minas Gerais, Goias and Sao Paulo, showing the dispersal of genes for HbS and HbC in the population of Ouro Preto. For this reason, we conclude that it is important to programs with greater coverage in the population for the study of the epidemiology of hemoglobin variants and other hemoglobinopathies due to a decreased synthesis of one or more globin chains, in Ouro Preto.