Evaluation of HPFH and delta beta-thalassemia mutations in a Brazilian group with high Hb F levels

Autor(es)

Carrocini, G. C. S. ^[1] ; Ondei, L. S. ^[2] ; Zamaro, P. J. A. ^[1] ; Bonini-Domingos, C. R. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Estadual Paulista, Dept Biol, Lab Hemoglobinas & Genet Doencas Hematol, Sao Jose Do Rio Preto, SP - Brazil

^[2] Univ Estadual Goias, Unidade Univ Porangatu, Porangatu, GO - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Genetics and Molecular Research; v. 10, n. 4, p. 3213-3219, 2011.
• Citações Web of Science: 5

Resumo

Fetal hemoglobin (Hb F) is characteristic of the fetal development period. However, in some genetic conditions, such as hereditary persistence of fetal hemoglobin (HPFH) and delta-beta thalassemia (delta beta-thalassemia), Hb F continues to be produced in adulthood. We evaluated the frequency of two mutations of HPFH, HPFH-1 and HPFH-2 African, and two mutations in delta beta-thalassemia, Sicilian and Spanish, in a Brazilian population. Peripheral blood samples were collected from adults from hospitals and blood centers in southeast and northeast Brazil. These individuals were healthy and without complaints of anemia, but had increased Hb F. Samples were submitted to electrophoretic and chromatographic analyses to quantify Hb F values and, subsequently, to molecular analyses to verify the mutations. In the molecular analysis, 16 of the 60 samples showed a heterozygous profile for the HPFH mutations, two for HPFH-1 and 14 for HPFH-2. In the same sample set, three were heterozygous for Spanish delta beta-thalassemia and none were heterozygous for Sicilian delta beta-thalassemia. The Hb F values in the HPFH-2 heterozygotes differed from those previously reported for this mutation. In this group, the HPFH mutations were more frequent than the delta beta-thalassemia mutations. The finding of these mutations in this Brazilian population reflects the mixing process that occurred during its formation. (AU)

• Processo FAPESP: 07/07887-0 - Delta-beta talassemia e persistência hereditária de hemoglobina fetal: relação com a presença de hemoglobina fetal aumentada
• Beneficiário: Gisele Cristine de Souza Carrocini
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica