<b>Prevalence of variant hemoglobins and thalassemias in a maroon community in Sergipe, Brazil

Abstract

ABSTRACT. Current analysis investigates the sickle-cell syndrome among members of a maroon community (comunidade quilombola) in the state of Sergipe, Brazil. The entire population, comprising five hundred and ninety-three people, was screened. Blood samples were collected from 318 people, aged between six months and fifty years, who underwent a solubility test to assess the presence of HbS, followed by Sickle-Cell Test to confirm its presence. Results revealed that 2.2% of the three hundred and eighteen people tested have hemoglobin HbS in their blood; 57% have type HbAS and 43% have a combination between thalassemia and heterozygous with a variable percentage of HbS ranging between 24.9 and 37.9%. Blood sampling revealed that only five out of the 318 people belonged to different families. Results are highly relevant for public health policies on the sickle-cell syndrome and its management.Keywords: sickle cell syndrome, maroon community, diagnosis.Prevalência de hemoglobinas variantes e talassemia em uma comunidade quilombola em Sergipe, Brasil RESUMO. Este trabalho investiga a síndrome da anemia falciforme entre os membros de uma comunidade quilombola no Estado de Sergipe, Brasil. Foi rastreada toda a população, que compreende 593 pessoas. Amostras de sangue foram coletadas de 318 pessoas, com idades entre seis meses e 50 anos, que foram submetidas a um teste de solubilidade para avaliar a presença de HbS, seguido pelo teste de falcização para confirmar a sua presença. Os resultados revelaram que 2,2% das 318 pessoas testadas apresentaram hemoglobina variante HbS em seu sangue; 57% possuíam a variante HbAS e 43% apresentaram uma combinação entre talassemia e heterozigotos com percentagens variáveis de HbS entre 24,9 e 37,9%. A coleta de sangue revelou que apenas cinco das 318 pessoas pertenciam a famílias distintas. Os resultados são altamente relevantes para o planejamento e gestão de políticas públicas de saúde sobre a síndrome falciforme.Palavras-chave: anemia falciforme, quilombolas, diagnóstico.

Quality of life of elderly quilombolas in the Brazilian northeast

“…Conversely, Santos et al 16 found little difference in the social relations and psychological domains, reporting hypertension and QoL in quilombas. Assis et al 18 identified worse averages for the psychological domain in retired or pensioner quilombas and women.…”

“…One possible explanation for the satisfaction identified in this domain may be average age (young elderly persons), as the functional capacity of the elderly has not yet been impaired and positively influences the perception of QoL. Assis et al 18 observed a correlation between age and the physical domain among quilomba communities investigated in Sergipe.…”

Ancestry, diversity, and genetics of health-related traits in African-derived communities (quilombos) from Brazil

“…G6PDd is an X chromosome-linked enzymopathy determined by missense single nucleotide variants (SNVs) in the G6PD gene (Howes et al 2013). Two known G6PD variants of African origin have clinical importance: G6PD*A (determined by the SNP rs1050829, a c.376 T > C mutation), and AMD, Abobral Margem Direita; AME, Abobral Margem Esquerda (Schneider et al 1987;Bortolini et al 1992Bortolini et al , 1998Arpini-Sampaio et al 1999;Guerreiro et al 1999;Oliveira et al 2002;De Mello Auricchio et al 2007;Cardoso et al 2012;de Souza et al 2013;De Assis et al 2015;Dantas et al 2016;Santiago et al 2017;Teles et al 2017) G6PD*A-(determined by rs1050829 and a second mutation: rs1050828 (c.202C > T), rs137852328 (c.680G > T), or rs76723693 (c.968 T > C)). Besides being associated with protection against malaria infection, G6PDd is of great public health importance in malaria-endemic regions, such as the Brazilian Amazon, for causing hemolytic crises induced by antimalarial drugs-such as primaquine-in G6PD deficient individuals.…”