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

• Autor(a) principal: Alcoforado,Gustavo Henrique de Medeiros
• Data de Publicação: 2012
• Outros Autores: Bezerra,Christiane Medeiros, Lemos,Telma Maria Araújo Moura, Oliveira,Denise Madureira de, Kimura,Elza Miyuki, Costa,Fernando Ferreira, Sonati,Maria de Fátima, Medeiros,Tereza Maria Dantas de
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Genetics and Molecular Biology
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400008
• topic: alpha-thalassemia; -α3.7 kb deletion; Brazilian population

α-Thalassemia, arising from a defect in a-globin chain synthesis, is often caused by deletions involving one or both of the a-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 A2 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 (-α3.7/αα) deletions and 1 (0.1%) homozy- gous (-α3.7/-α3.7). Ethnically, heterozygous deletions were higher (24.8%) in Afro-Brazilians. Comparison of hemato- logical 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 A2 (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.