Raquelina Ferreira (CB):

Profile of hemoglobinopathies in children at the Maputo Central Hospital and Beira Central Hospital.

General objective: Diagnose and molecularly characterize hemoglobinopathies in children of central hospitals in Maputo (HCM), Beira (HCB) and Nampula (HCN).

Specific objectives: to calculate the prevalence of alpha and beta-thalassemia, sickle cell disease and other hemoglobin variants in children in HCM, HCB and HCN, using capillary electrophoresis of hemoglobin; determine the frequency of the usual genotypes for alpha and beta-thalassemia in the Mozambican population; confirm mutations associated with sickle cell anemia and other hemoglobin variants and calculate their frequency in the Mozambican population; establish molecular tools for genotyping and diagnosis of hemoglobinopathies; identify and analyze genomic/somatic variations in children of HCMs, HCBs and HCNs; evaluate whole genome binding sequences for the different phenotypes identified.

In collaboration with: Istituto di Ricerca Genetica e Biomedica (IRGB)