Determination of beta(S) haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)beta(S) haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.343421424Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)CNPq [409766/2006-2]FAPESP [2008/57441-0

Prevalence of alpha-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)alpha-Thalassemia, arising from a defect in alpha-globin chain synthesis, is often caused by deletions involving one or both of the alpha-genes on the same allele. With the aim of investigating the prevalence of alpha-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years-of-age, were analyzed. Red blood cell indices were electronically determined, and A(2) and F hemoglobins evaluated by HPLC. PCR was applied to the molecular investigation of alpha-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented alpha-thalassemia, of which 79 (11.1%) were heterozygous (-alpha(3.7)/alpha alpha) deletions and 1 (0.1%) homozygous (-alpha(3.7)/-alpha(3.7)). Ethnically, heterozygous deletions were higher (24.8%) in Afro-Brazilians. Comparison of hematological parameters between individuals with normal genotype and those with heterozygous alpha(+)-thalassemia showed a statistically significant difference in the number of erythrocytes (p < 0.001), MCV (p < 0.001), MCH (p < 0.001) and Hb A(2) (p = 0.007). This study is one of the first dedicated to investigating alpha-thalassemia 3.7 kb deletion in the population of the State Rio Grande do Norte state. Results obtained demonstrate the importance of investigating this condition in order to elucidate the causes of microcytosis and hypochromia.353594598Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundacao de Apoio a Pesquisa do Estado do Rio Grande do Norte (FAPERN/PPSUS III) [011/2009]Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)CNPq [475855/2006-0]Fundacao de Apoio a Pesquisa do Estado do Rio Grande do Norte (FAPERN/PPSUS III) [011/2009]FAPESP [2008/57441-0