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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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]
Total Authors: 8
[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
Total Affiliations: 4
Document type: Journal article
Source: GENETICS AND MOLECULAR BIOLOGY; v. 35, n. 3, p. 594-598, 2012.
Web of Science Citations: 5

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)

FAPESP's process: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias
Grantee:Fernando Ferreira Costa
Support type: Research Projects - Thematic Grants