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| Alcoforado,Gustavo Henrique de Medeiros; 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. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-thalassemia; -α3.7 kb deletion; Brazilian population. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400008 |
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