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.