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

• Autor(a) principal: Nascimento,Rafael E.
• Data de Publicação: 2015
• Outros Autores: Castelo,Natália M., Bueno,Adriana C., Mescouto,Larissa, Rodrigues,Artemis S. N.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442015000200099
• topic: sickle cell disease; HBS gene; haplotypes; northern Brazil

Introduction: Sickle cell anemia (SCA) is the most severe form of sickle cell disease; it presents variants that are called haplotypes βS. There are five major haplotypes βS 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.