Thalassemias

Abstract

Thalassemias are genetic disorders of hemoglobin production. Individuals with heterozygous state, known as carriers, do not present health problems. However, some carriers may experience mild anemia. Identification of a carrier is important to prevent births of children with severe anemia, if the partner has the same genetic characteristic. The treatment of beta thalassemia major is based on regular transfusion of red cells, which they must be leukorreduced and phenotyped, and prevention of iron overload, mainly due to transfusions. Although, the treatment of beta thalassemia major can be considered a success story, adults and adolescents are still dying, most commonly from heart failure, and children often develop complications such as growth failure and hipogonadism. These complications are directly related to transfusion iron overload, and the ability to adhere to subcutaneous desferrioxamine infusions for iron chelation therapy. Fortunately, in the past new years, the production of deferiprone and deferasirox, oral chelators, has led to a better adhesion of treatment. It is important to remember that both patients and families can have social and psychological problems. Therefore, the staff involved in treating patients with thalassemia major must offer the best treatment for them. Moreover, it is truly important for adult patients to get some job to perform. © Copyright Moreira Jr. Editora.