Isabeth da Fonseca Estevão

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Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the(More)
OBJECTIVE To analyze the neonatal screening program for hemoglobinopathies in Sao Carlos, Sotheast Brazil, by investigating a series of cases which the screening test was abnormal. More specifically, it was aimed to know the information regarding the neonatal screening received by mothers at hospital and at primary health care, in addition to information(More)
BACKGROUND Several studies have evaluated the oxidant and antioxidant status of thalassemia patients but most focused mainly on the severe and intermediate states of the disease. Moreover, the oxidative status has not been evaluated for the different beta-thalassemia mutations. OBJECTIVE To evaluate lipid peroxidation and Trolox equivalent antioxidant(More)
DOI: 10.5581/1516-8484.20110086 There are about 270 million people worldwide who are carriers of abnormal hemoglobins with clinical outcomes ranging from asymptomatic to death. In Brazil, due to the composition of the population, with influence of Caucasians, Blacks and Asians, there is a considerable number of individuals with genes related to sickle cell(More)
There have been few studies on the mutations that cause heterozygous beta-thalassemia and how they affect the iron profile. One hundred and thirty-eight individuals were analyzed, 90 thalasemic β⁰ and 48 thalasemic β(+), identified by classical and molecular methods. Mutations in the hemochromatosis (HFE) gene, detected using PCR-RFLP, were found in 30.4%(More)
Objective: To analyze the neonatal screening program for hemoglobinopathies in São Carlos, Southeast Brazil, by investigating a series of cases in which the screening test was abnormal. More specifically, it was aimed to know the information regarding the neonatal screening received by mothers at the hospital and at primary health care, in addition to(More)
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