Frequency and origin of haplotypes associated with the beta-globin gene cluster in individuals with trait and sickle cell anemia in the Atlantic and Pacific coastal regions of Colombia

Abstract

Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we determined the frequency and the origin of haplotypes associated with hemoglobin S in a sample of individuals with sickle cell anemia (HbSS) and sickle cell hemoglobin trait (HbAS) in coastal regions of Colombia. Blood samples from 71 HbAS and 79 HbSS individuals were obtained. Haplotypes were determined based on the presence of variable restriction sites within the β-globin gene cluster. On the Pacific coast of Colombia the most frequent haplotype was Benin, while on the Atlantic coast Bantu was marginally higher than Benin. Eight atypical haplotypes were observed on both coasts, being more diverse in the Atlantic than in the Pacific region. These results suggest a differential settlement of the coasts, dependent on where slaves were brought from, either from the Gulf of Guinea or from Angola, where the haplotype distributions are similar. Atypical haplotypes probably originated from point mutations that lost or gained a restriction site and/or by recombination events.

Beta-Globin Gene Haplotypes Among Cameroonians and Review of the Global Distribution: Is There a Case for a Single Sickle Mutation Origin in Africa?

“…The data presented confirm the origin and flow of people from Africa through the slave trade and/or migration, and emphasize differences in settlement on the American coasts dependent on whether slaves were brought from the Gulf of Guinea or from Angola (Fong et al, 2013). Similarly, trade and migration routes to the Mediterranean areas and the Middle East from West Africa explain the high prevalence of Benin haplotypes and general pattern of haplotype distribution in those parts of the world (Fig.…”

Congolese children with sickle cell trait may exhibit glomerular hyperfiltration: A case control study

“…Different migrations have promoted the expansion of the gene in other parts of the world . In United States, the sickle cell trait varies from 7% to 10% among African descendants . The higher concentration of this sickle cell trait is found in Africa, in the Mediterranean region and the Middle West .…”

“…3 In United States, the sickle cell trait varies from 7% to 10% among African descendants. [4][5][6][7][8][9] The higher concentration of this sickle cell trait is found in Africa, in the Mediterranean region and the Middle West. 10 sub-Saharan Africa accounts for about 64% of newborns trait carriers.…”

Variantes genéticas asociadas con niveles de hemoglobina fetal muestran diversos orígenes étnicos en pacientes colombianos con anemia falciforme

“…The prevalence of allele 'A', tagging mostly the 'Senegal' sickle haplotype and a few atypical haplotypes (28), is due to the specific origin of the African ancestors of our patients, which might have included individuals from Senegal or Sierra Leone, where this allele is more frequent (29).…”