Data/hora: 02/06/2024 01:33:01

Provedor de dados: | 74
País: | Brazil
Título: | Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Autores: | Mota,Natália O.; Kimura,Elza M.; Ferreira,Roberta D.; Pedroso,Gisele A.; Albuquerque,Dulcinéia M.; Ribeiro,Daniela M.; Santos,Magnun N. N.; Bittar,Cristina M.; Costa,Fernando F.; Sonati,Maria de Fatima.
Data: | 2017-12-01
Ano: | 2017
Palavras-chave: | Α-Thalassemia; Hb H disease; Multiplex ligation-dependent probe amplification; MLPA; Brazilian population.
Resumo: | Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500768
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-gmb-2016-0330
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.40 n.4 2017
Fonte: | info:eu-repo/semantics/openAccess