Perfil epidemiológico dos pacientes com anemia falciforme e ocorrência familiar da doença no norte do estado de Minas Gerais - Brasil

Abstract

Hemoglobinopathies are the most common inherited disorders in humans, being represented mainly by thalassemia and sickle cell disease (SCD). The SCD is a genetic disorder characterized by the presence of mutant hemoglobin called hemoglobin S (Hb S), which causes the distortion of red blood cells, causing them to take the form of "sickle". The term sickle cell anemia (SCA) is reserved for the form of the disease that occurs in homozygous (HbSS). In Brazil, SCA is distributed heterogeneously, and there is a higher rate in areas where the proportion of black ancestors is prevalent. In MG, the incidence of SCA is significant in the North and Northeast. The objectives of this study were: (1) to evaluate the epidemiological profile of patients with SCA in the north of Minas Gerais; (2) to study the familial occurrence of SCA in the same region of the state of Minas Gerais. For the first objective, were assessed 460 medical records of patients with SCA who were registered between July 1993 and December 2007 at Hemominas, section of Montes Claros. Population evaluated, there was no statistical difference between genders (p=0.136). Regarding the origin of the patients with SCA, most of them (66.7%) were derived from the urban area of cities located at a distance exceeding 101 km from the blood center. Regarding ethnicity, 80.9% were brown-skinned and mean age was 17.4 years, with standard deviation of 12.18. Most patients (49.8%) were diagnosed with the disease between 1 week and 1 year of life and began treatment in the same age. Data of blood transfusion: 65.7% had undergone the procedure and 78.5% of them presented infection. The most frequent infections being the upper respiratory tract, pneumonia and skin infections. The stroke occurred in 5.4% of patients and splenic sequestration in 10.2%, while splenectomy was performed in 5.2% of the population. With the serology performed, were identified positives cases for hepatitis B and C, 5.7% and 1.7% respectively. The vaccination schedule was irregular in most patients (64.1%). For the second objective, we performed a cross-sectional study, considering the medical records of 130 patients with SCA registered by newborn screening, in the period from November 1998 to December 2007. The family screening - as well as the record of the occurrence of SCA in first-degree relatives - was extracted from medical records. In this research were considered first-degree relatives: parents, mothers and siblings. Among the 130 patients evaluated, there was similarity between the genders (p=0.861) and the majorities were brown-skinned (70.8%). It was also observed that 15.4% patients had at least one relative affected by the disease, and the siblings were the members more affected (17%). From the 130 cases of SCA studied and diagnosed by newborn screening, it was possible to establish the existence of 26 cases among first-degree relatives of that population. It is worth saying this present study is limited because its results were collected from records of medical records.