To determine whether beta-thalassemia can be detected in the fetus, blood was obtained from abortuses of normal mothers and of mothers with beta-thalassemia trait. The red cells were incubated with radioactive leucine and the globin chains were analyzed by radiochromatography. Two independent methods were utilized to correct the results for contamination by maternal radioactive beta-chain, and ...

Homozygous thalassemia is due to inherited unbalanced synthesis of the alpha- or beta-chains of hemoglobin. Clinical severity may be in part related to the extent of alpha:beta imbalance. Two families are presented that illustrate this concept. Thalassemia in these individuals was evaluated by clinical and genetic criteria. The relative rates of alpha- and beta-chain synthesis in their reticulo...

Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for beta0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies. The presence of an unknown molecular defect (silent beta-thalassemia) unlinked to the beta cluster interacting with the heterozygous beta thalassemia, was previously postulated in these families. Analy...

Background: Disorders with a markedly slowed rate of globin chain synthesis are referred to as thalassemia. Hemoglobinopathy is word used describe diseases that cause structurally aberrant hemoglobin. Iron deficiency seen in beta-thalassemia minor, which may change the typically increased HbA2 levels. According World Health Organization (WHO) statistics, 7% global population carries hemoglobin ...

The Brazilian Ministry of Health created the National Neonatal Screening Program under ruling no. 822/2001, including neonatal screening for hemoglobinopathies. In the State of Paraná, neonatal screening is conducted by the Ecumenical Foundation for the Protection of the Handicapped. The prevalence rates were determined for homozygous and heterozygous hemoglobin S and Sbeta-thalassemia. Blood s...

Hemoglobinopathies were included in the Brazilian Neonatal Screening Program on June 6, 2001. Automated high-performance liquid chromatography (HPLC) was indicated as one of the diagnostic methods. The amount of information generated by these systems is immense, and the behavior of groups cannot always be observed in individual analyses. Three-dimensional (3-D) visualization techniques can be a...

INTRODUCTION Iron overload is a major problem in patients with b-thalassemia major, and it has many structural and metabolic consequences. In this study, we aimed to consider the prevalence of endocrine abnormalities in patients with β-thalassemia major and thalassemia intermedia. MATERIALS AND METHODS We ordered following tests for consideration endocrine abnormalities: fasting plasma glucos...

The role of the laboratory in the diagnosis of thalassemia and hemoglobinopathies is crucial. The objective of our study was to compare two common methods used in hemoglobinopathy and thalassemia investigation. Hemoglobin electrophoresis and HPLC (high performance liquid chromatography) were used to investigate patients suspected with thalassemia. A total of 301 adult and child blood samples we...

A considerable number of deletions of variable size and position that involve the B-globin gene complex on chromosome 1 1 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and a@ thalassemia. Specific deletions appear to be associated with consistent phenotypes and some are known to be recurrent. To facilitate the molecular diagnosis of uncharacte...

BACKGROUND Brazil has a multiethnic population with a high diversity of hemoglobinopathies. While screenings for beta-globin mutations are far more common, alterations affecting alpha-globin genes are usually more silent and less well known. The aim of this study was to describe the results of a screening program for alpha-globin gene mutations in a representative sample of the Southeastern Bra...