Abstract
Sickle cell anemia (SCA) is the most common monogenic hereditary disease in Brazil. The North and Northeastern regions of Brazil concentrate a large number of outstanding African ancestry communities, denominated kilombo. The aim of this study was to make a survey of SCA cases in the Boqueirao Kilombo community, situated in Bahia semi-arid region. Individuals from the 467 who replied positively for the occurrence of jaundice, and family history of sickle cell anemia were pre-selected to undergo the diagnostic exam for sickle cell anemia and included in the Group 1. The others individuals were included in the Group 2. Blood samples evaluation of Group 1 showed the following hemoglobin genotypes: HbAA in 65 individuals, HbSS in 3 individuals and HbAS in 29 individuals, HbAF in 1 individual and HbAC in 2 individuals. One of the individuals with SCA and all the heterozygots for the mutated allele S did not know that they had the mutation. The survey data demonstrate the need for health assistance directed towards these special communities.
Highlights
276,000 new cases of sickle cell anemia are detected annually worldwide [1]
The questionnaire was composed of 84 questions, 25 of which were related to signs and symptoms of anemia, and asked about current or previous presence of the following: jaundice, pneumonia, cough with secretion, pain, ulcers, hospitalizations, blood transfusions and cases of sickle cell anemia in the family
For the effects of comparison, inquiry results were divided into two groups: (Group 1) constituted only of individuals who responded positively for jaundice, cases of Sickle cell anemia (SCA) in the family or three simultaneous manifestations normally presented by patients with falciform disease (n=100) and (Group 2) composed of individuals who did not present positivity for the recently pointed out aspects (n=376)
Summary
276,000 new cases of sickle cell anemia are detected annually worldwide [1]. Sickle cell anemia (SCA) is the most common monogenic hereditary disease in Brazil and the best known of the hereditary alterations in man [2]. Individuals with SCA present a hemoglobinopathy characterized by red blood cells rigidity, compromised tissue perfusion and infarction. Chronic hemolysis is related to jaundice, diminished bioavailability of nitric oxide (NO), oxidative stress and endothelial activation [3,4]. Dysfunctional immune response predisposes patients with this hemoglobinopathy to severe infections.
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