Hemoglobinopathies and other hereditary hematological diseases in the brazilian population

ABSTRACT

The complex history and structure of the Brazilian population, to which contributed a large number of ethnic components that are in a state of increasing miscegenation, are reflected in the diversity, frequency and regional distribution of the more common hereditary diseases. It is interesting to observe that no gene mutation was inherited from the original Amerindian population, which is severely reduced today. Four important group of hereditary hematological diseases are represented in the Brazilian population Sickle cell anemia and other hemoglobinopathies, the thalassemias, familial hypercholesterolemia and thrombophilia. Sickle cell anemia, hemoglobin C disease and thalassemias are heterogeneously distributed owing to the unevenly proportion of descendants of African blacks and European immigrants in the different regions of the country. The most frequent cause of familiar hypercholesterolemia is a mutation of Arab origin. The mutations that may represent risk factors for thrombophilia have a heterogenous ethnic distribution which may help to explain the differences in the prevalence of thrombotic diseases.