Absence of atypical haplotype and presence of Senegal haplotype sickle cell disease in African-descent population in the northern Brazil

Ausência do haplótipo atípico e presença do haplótipo Senegal da doença falciforme em uma população afrodescendente na região norte do Brasil

Introduction:

Sickle cell anemia (SCA) is the most severe form of sickle cell disease; it presents variants that are called haplotypes β^S. There are five major haplotypes β^S gene: Arab-Indian/Saudi, Senegal, Benin, Bantu, and Camaroon.

Objective:

Characterize the presence of haplotypes in patients with SCA in Amapá.

Methods:

46 sample were studied, all samples were amplified and analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).

Results:

Bantu (61.2%), followed by Benin (26.5%) and Senegal (12.2%).

Conclusion:

We identified three haplotypes characteristic of African ethnicity, with the presence of Senegal. In our study we found the presence of atypical haplotype, suggesting concentration and semi-isolation of the founding groups with little mixing.

sickle cell disease; HBS gene; haplotypes; northern Brazil