| Journal: | Genetics and molecular biology |
| Database: | PERIÓDICA |
| System number: | 000401278 |
| ISSN: | 1415-4757 |
| Authors: | Lindenau, Juliana D1 Wagner, Sandrine C2 Castro, Simone M. de3 Hutz, Mara H1 |
| Institutions: | 1Universidade Federal do Rio Grande do Sul, Departamento de Genetica, Porto Alegre, Rio Grande do Sul. Brasil 2Universidade Federal de Ciencias da Saude, Porto Alegre, Rio Grande do Sul. Brasil 3Universidade Federal do Rio Grande do Sul, Faculdade de Farmacia, Porto Alegre, Rio Grande do Sul. Brasil |
| Year: | 2016 |
| Season: | Dic |
| Volumen: | 39 |
| Number: | 4 |
| Pages: | 515-523 |
| Country: | Brasil |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Experimental, aplicado |
| English abstract | Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian (ARAB). These haplotypes demonstrated that the sickle cell mutation arose independently at least five times in human history. The distribution of βS haplotypes among Brazilian populations showed a predominance of the CAR haplotype. American populations were clustered in two groups defined by CAR or BEN haplotype frequencies. This scenario is compatible with historical records about the slave trade in the Americas. When all world populations where the sickle cell gene occurs were analyzed, three clusters were disclosed based on CAR, BEN or ARAB haplotype predominance. These patterns may change in the next decades due to recent migrations waves. Since these haplotypes show different clinical characteristics, these recent migrations events raise the necessity to develop optimized public health programs for sickle cell disease screening and management |
| Disciplines: | Medicina |
| Keyword: | Hematología, Genética, Anemia falciforme, Regulación genética, Hemoglobina, Globina, Haplotipos, Migraciones, Genética de poblaciones |
| Keyword: | Medicine, Hematology, Genetics, Sickle cell disease, Genetic regulation, Hemoglobin, Globin, Haplotypes, Migrations, Population genetics |
| Full text: | Texto completo (Ver HTML) |
