Consulta: creatorFacets:"Santos,Magnun N. N."
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Data/hora: 10/06/2024 02:54:40

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Provedor de dados: 74
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.
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...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Α-Thalassemia; Hb H disease; Multiplex ligation-dependent probe amplification; MLPA; Brazilian population.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500768