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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

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

Autor(es):
de Medeiros Alcoforado, Gustavo Henrique [1] ; Bezerra, Christiane Medeiros [2] ; Araujo Moura Lemos, Telma Maria [1] ; de Oliveira, Denise Madureira [3] ; Kimura, Elza Miyuki [3] ; Costa, Fernando Ferreira [4] ; Sonati, Maria de Fatima [3] ; Dantas de Medeiros, Tereza Maria [1]
Número total de Autores: 8
Afiliação do(s) autor(es):
[1] Univ Fed Rio Grande do Norte, Dept Anal Clin & Toxicol, BR-59010180 Natal, RN - Brazil
[2] Univ Fed Rio Grande do Norte, Dept Microbiol & Parasitol, BR-59010180 Natal, RN - Brazil
[3] Univ Estadual Campinas, Dept Patol Clin, Fac Ciencias Med, Campinas, SP - Brazil
[4] Univ Estadual Campinas, Hemoctr, Campinas, SP - Brazil
Número total de Afiliações: 4
Tipo de documento: Artigo Científico
Fonte: GENETICS AND MOLECULAR BIOLOGY; v. 35, n. 3, p. 594-598, 2012.
Citações Web of Science: 5
Resumo

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. (AU)

Processo FAPESP: 08/57441-0 - Alterações clínicas, celulares e moleculares nas hemoglobinopatias e em outras anemias hemolíticas hereditárias
Beneficiário:Fernando Ferreira Costa
Linha de fomento: Auxílio à Pesquisa - Temático