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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Rare alpha(0)-thalassemia deletions detected by MLPA in five unrelated Brazilian patients

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Autor(es):
Mota, Natalia O. [1] ; Kimura, Elza M. [1] ; Ferreira, Roberta D. [1] ; Pedroso, Gisele A. [1] ; Albuquerque, Dulcineia M. [2] ; Ribeiro, Daniela M. [1] ; Santos, Magnun N. N. [1] ; Bittar, Cristina M. [3] ; Costa, Fernando F. [2] ; Sonati, Maria de Fatima [1]
Número total de Autores: 10
Afiliação do(s) autor(es):
[1] Univ Estadual Campinas UNICAMP, Fac Ciencias Med, Dept Patol Clin, Lab Hemoglobinopatias, Campinas, SP - Brazil
[2] Univ Estadual Campinas UNICAMP, Hemoctr, Campinas, SP - Brazil
[3] Hosp Clin Porto Alegre, Porto Alegre, RS - Brazil
Número total de Afiliações: 3
Tipo de documento: Artigo Científico
Fonte: GENETICS AND MOLECULAR BIOLOGY; v. 40, n. 4, p. 768-773, OCT-DEC 2017.
Citações Web of Science: 1
Resumo

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 alpha-globin genes, located on chromosome 16p13.3, are the main causes of alpha-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause alpha-thalassemia, particularly large deletions involving the whole alpha cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of alpha-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -alpha(3.7) deletion identified in the patients with Hb H disease, four different alpha(0) deletions removing 15 to 225 kb DNA segments were found: two of them remove both the alpha genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire alpha cluster and the HS-40 region. These results illustrate the diversity of alpha-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 A(2) levels. (AU)

Processo FAPESP: 15/21184-8 - Padronização da cultura de células THP-1 para avaliar a resposta dos miRNAs e dos seus genes alvo frente à influência de estímulos anti-inflamatórios
Beneficiário:Roberta Dorta Ferreira
Linha de fomento: Bolsas no Brasil - Iniciação Científica
Processo FAPESP: 14/00984-3 - Doenças dos glóbulos vermelhos: fisiopatologia e novas abordagens terapêuticas
Beneficiário:Fernando Ferreira Costa
Linha de fomento: Auxílio à Pesquisa - Temático