MOLECULAR ANALYSIS OF beta-THALASSEMIA PATIENTS: FIRST IDENTIFICATION OF MUTATIONS HBB:c.93-2A > G and HBB:c.114G > A IN BRAZIL

Autor(es)

Fernandes, Andrea Cristina ^[1] ; Azevedo Shimmoto, Marily Maria ^[1] ; Furuzawa, Gilberto Koiti ^[2] ; Vicari, Perla ^[1] ; Figueiredo, Maria Stella ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Escola Paulista Med, Disciplina Hematol & Hemoterapia, BR-04023900 Sao Paulo - Brazil

^[2] Univ Fed Sao Paulo, Escola Paulista Med, Disciplina Endocrinol, BR-04023900 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: HEMOGLOBIN; v. 35, n. 4, p. 358-366, 2011.
• Citações Web of Science: 3

Resumo

The various clinical phenotypes in beta-thalassemias have stimulated the study of genetic factors that could modify the manifestations of these diseases. We examined 21 patients with beta-thalassemia (beta-thal) in order to identify some genetic modifying factors: beta-thalassemia mutations, HBG2:g. -158C>T polymorphism, alpha-globin gene deletions and (AT)xNz(AT)y motif within the hypersensitive site 2-locus control region (HS2-LCR). In the 42 alleles analyzed, the most frequent mutations observed were HBB:c.92+6T>C (30.9%), HBB:c.118C>T (16.7%), HBB:c.93-21G>A (11.9%) and HBB:c.92+1G>A (4.8%); this finding is in accordance with previous data of the Brazilian population. The other genetic factors analyzed showed no relation with the severity of the disease. For the first time in Brazil, we report HBB:c.93-2A>G and HBB:c.114G>A mutations on the beta-globin gene, both in a heterozygous state. This is also the first study to analyze the HS2-LCR in beta-thalassemic individuals in the Brazilian population. (AU)

• Processo FAPESP: 00/14322-0 - Análise da expressão do gene da globina gama em pacientes portadores de beta talassemia e em indivíduos com diseritropoeses adquiridas
• Beneficiário: Maria Stella Figueiredo
• Modalidade de apoio: Auxílio à Pesquisa - Regular