A decision support scheme for beta thalassemia and HbE carrier screening

Beta-Thalassemia Carrier Detection by NESTROFT

Why are hemoglobin F levels increased in HbE/beta thalassemia?

To try to further define the mechanisms that increase the levels of hemoglobin F (HbF) in the blood of patients with severe forms of beta thalassemia, we have studied two comparable populations of hemoglobin E (HbE)/beta thalassemics, one regularly transfused and one receiving only occasional blood transfusions. Regular transfusion was associated with a significant decrease in soluble transferr...

Premarital genetic screening for beta thalassemia carrier status of indexed families using HbA2 electrophoresis.

OBJECTIVE To devise a strategy for prevention of beta thalassemia in newborns through reliable screening of indexed families. METHODS The cross-sectional study was conducted over six months in 2011 and comprised blood samples collected from subjects belonging to different ethnic groups from families of beta thalassemia major children registered with the Abbottonian Medical Association Blood C...

Carrier screening for thalassemia and hemoglobinopathies in Canada.

OBJECTIVE To provide recommendations to physicians, midwives, genetic counsellors, and clinical laboratory scientists involved in pre-conceptional or prenatal care regarding carrier screening for thalassemia and hemoglobinopathies (e.g., sickle cell anemia and other qualitative hemoglobin disorders). OUTCOMES To determine the populations to be screened and the appropriate tests to offer to mi...

Role of interleukin-3 and signaling pathways on beta-thalassemia/HbE erythroid progenitor cell in culture.

In order to study the role of the cytokine interleukin-3 (IL-3) and its signaling pathways in erythropoiesis of beta-thalassemia/HbE erythroid progenitor cells, CD34 positive cells were isolated from peripheral blood of patients and healthy subjects. After culturing the cells in the presence or absence of IL-3, cell viability was measured by trypan blue staining and apoptotic cells were analyze...