POLYMORPHISM IN THE HMOX1 GENE IS ASSOCIATED WITH HIGH LEVELS OF FETAL HEMOGLOBIN IN BRAZILIAN PATIENTS WITH SICKLE CELL ANEMIA

Autor(es)

Gil, Gislene P. ^[1] ; Ananina, Galina ^[1] ; Oliveira, Mariana B. ^[1] ; Costa, Fernando F. ^[2] ; Silva, Marcio J. ^[1] ; Santos, Magnun N. N. ^[3] ; Bezerra, Marcos A. C. ^{[4, 5]} ; Hatzlhofer, Betania L. D. ^{[4, 5]} ; Araujo, Aderson S. ^[4] ; Melo, Monica B. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Campinas UNICAMP, Lab Human Mol Genet, Ctr Mol Biol & Genet Engn CBMEG, Sao Paulo - Brazil

^[2] Univ Campinas UNICAMP, Haematol & Haemotherapy Ctr HEMOCTR, Sao Paulo - Brazil

^[3] Univ Campinas UNICAMP, Dept Clin Pathol, Fac Med Sci FCM, Sao Paulo - Brazil

^[4] Haematol & Haemotherapy Ctr Pernambuco HEMOPE, Recife, PE - Brazil

^[5] Univ Fed Pernambuco, Postgrad Program Genet, Recife, PE - Brazil

• Tipo de documento: Artigo Científico
• Fonte: HEMOGLOBIN; v. 37, n. 4, p. 315-324, 2013.
• Citações Web of Science: 4

Resumo

The aim of this study was to investigate the association between three polymorphisms involved in the oxidative stress pathway and fetal hemoglobin (Hb F) levels in patients with sickle cell anemia in a Brazilian population. One hundred and seven patients with sickle cell anemia were recruited for genomic DNA extraction. The levels of Hb F, sex and age were evaluated. Three polymorphisms, rs4673:T>C and rs9932581:G>A in the CYBA gene and rs2071746:A>T in the HMOX1 gene, were identified through direct sequencing. Hb F levels were not associated with sex, age, or the polymorphisms rs4673: T>C and rs9932581: G>A. However, the TT genotype of the rs2071746:A>T polymorphism was associated with increased levels of Hb F (p value = 0.0131). We observed an association between the TT genotype of the rs2071746:A>T polymorphism, present in the HMOX1 gene, and increased levels of Hb F, indicating the presence of a new marker related to Hb F levels in sickle cell anemia patients. (AU)

• Processo FAPESP: 08/57441-0 - Alterações clínicas, celulares e moleculares nas hemoglobinopatias e em outras anemias hemolíticas hereditárias
• Beneficiário: Fernando Ferreira Costa
• Linha de fomento: Auxílio à Pesquisa - Temático