Identification of βs gene haplotypes in individuals with falciform anemia in mato grosso do sul, Brazil

International Journal of Development Research

Volume: 
8
Article ID: 
12124
4 pages
Research Article

Identification of βs gene haplotypes in individuals with falciform anemia in mato grosso do sul, Brazil

Rozilda Pulquério Salles, Maria Lúcia Ivo, Tatiana Mary Sakamoto, Marcos André Bezerra Cavalcanti, Maria Aparecida Rogado Brum, Elenir Rose Jardim Cury Pontes and Valter Aragão do Nascimento

Abstract: 

Background: Sickle cell anemia is a genetic disease determined by homozygous hemoglobin S. It is marked by clinical variability depending on some factors such as the haplotypes associated with the globin βS gene. Objective: This investigation was undertaken to characterize the haplotypes of the βS gene in people with sickle cell anemia assisted in the state of Mato Grosso do Sul, Brazil. Material and methods: A cross-sectional study was carried out in 47 blood samples from individuals with sickle cell anemia of both sexes attended at hematology outpatient clinics of two public institutions. DNA was extracted from the leukocytes obtained from the whole blood of those surveyed using the phenol / chloroform method. It was used for the identification of haplotypes by PCR / RFLP. The analyzed variables were sickle cell anemia, haplotypes, sex and age. Results: Of the 47 blood samples, 26 were from female and 21 from male, with ages ranging from 3 to 63 years (23 ± 12.2 years). In relation to haplotypes, there was predominance of Central African Republic (CAR) or Bantu (69.1%), followed by Benin (21.3%), Atypical (8.5%) and Cameroon (1.1%). Conclusion: It was verified that the CAR haplotype was the most frequent in the state of Mato Grosso do Sul, corroborating with the data obtained in most of the Brazilian regions.

Download PDF: