Identification of βs gene haplotypes in individuals with falciform anemia in mato grosso do sul, Brazil
International Journal of Development Research
Identification of βs gene haplotypes in individuals with falciform anemia in mato grosso do sul, Brazil
Received 10th December, 2017;Received in revised form 17th January, 2018; Accepted 21st February, 2018; Published online 30th March, 2018
Copyright © 2018, Rozilda Pulquério Salles et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.