Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/97489
Type: Artigo de periódico
Title: Prevalence Of α-thalassemia 3.7 Kb Deletion In The Adult Population Of Rio Grande Do Norte, Brazil
Author: Alcoforado G.H.M.
Bezerra C.M.
Lemos T.M.A.M.
de Oliveira D.M.
Kimura E.M.
Costa F.F.
de Fatima Sonati M.
de Medeiros T.M.D.
Abstract: α-Thalassemia, arising from a defect in α-globin chain synthesis, is often caused by deletions involving one or both of the α-genes on the same allele. With the aim of investigating the prevalence of α-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 α-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented α-thalassemia, of which 79 (11.1%) were heterozygous (-α 3.7/αα) deletions and 1 (0.1%) homozygous (-α 3.7/-α 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 α +-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 α-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. © 2012, Sociedade Brasileira de Genética. Printed in Brazil.
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Rights: aberto
Identifier DOI: 10.1590/S1415-47572012005000049
Address: http://www.scopus.com/inward/record.url?eid=2-s2.0-84865395986&partnerID=40&md5=44421967526fed1ed0b1e0c42a7a7ddb
Date Issue: 2012
Appears in Collections:Unicamp - Artigos e Outros Documentos

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