Study on sickle cell disease haplotypes reveals the African origin of Amapá's population

Abstract

Introduction: Sickle cell disease (SCD) is a hereditary, hematologic, multifactorial disease, with high prevalence worldwide; its cause is a mutation in the sixth codon of the beta globin gene (βs). Objective: To identify the haplotypes present in people with SCD in Amapá, and relate them to African descent. Methods: We analyzed, by molecular techniques, 46 blood samples from people with SCD in Macapá, the capital of Amapá, with the purpose of obtaining information about haplotype frequency distribution, which helps understand the ethnic background of Amapá's population. Results: Our study revealed that the most frequent haplotype is Bantu (61.2%), followed by Benin (26.6%) and Senegal (12.2%). Results showed statistical differences from studies conducted in other regions. A high frequency of the Senegal haplotype stands out, in comparison with some Brazilian studies. Conclusion: Amapá's results exhibit unique characteristics when compared to haplotypes in other regions, with high frequency of Senegal and Benin haplotypes, absence of atypical, Cameroon and Saudi, confirming that Brazil shows ethnic background diversity, as well as different haplotype frequencies.

Alterações retinianas em pacientes com doença falciforme: uma série de casos

“…S ickle cell diseases represent a group of inherited diseases, more prevalent in people of Black African heritage, characterized by abnormal hemoglobin formation 1,2,3,4,5 . According to the Programa Nacional de Triagem Neonatal (PNTN) of the Brazilian Ministry of Health, 3,500 children are born in Brazil per year with sickle cell disease (SCD) and 200,000 with sickle cell trait; besides, it is estimated that 7,200,000 people have sickle cell trait (HbAS) and between 25,000 and 30,000 people have SCD 6 .…”