Síndromes talassêmicas e o risco gestacional: uma revisão de literatura

Abstract

Hemoglobin is a protein that is present in erythrocytes and it is mainly responsible for the gas exchange and tissues oxygen supply, therefore an essential component for the proper functioning and cells health. Its structure, however, may bring genetic alterations with hereditary or acquired features, thus characterizing the hemoglobinopathies. These alterations are among the world’s main genetic disorders. The structure disorder of the hemoglobin is present on several continents and it is estimated that there are 270 million persons with hemoglobinopathies in the world, in which 80 million of them have thalassemia. Thalassemia, which is classed according to an affected chain and its symptoms, is divided into two types: alpha thalassemia and beta thalassemia (predominant in populations with African descent origins). Alpha thalassemia is classified into α+-thalassemia (-α / αα), trace of α0-thalassemia (-- / αα), Hb H disease (-- / -α) and fetal hydrops (-- / --), the latter one is incompatible with life. Beta thalassemia, in turn, is classified as minor, intermediate and major thalassemia. The signs and symptoms vary according to the type of the disease and can just be presented as anemia and tiredness or an intense condition of cardiomegaly. The UN has a goal to reduce preventable deaths by 2030, given the high rates of maternal and child mortality. In Brazil, for example, about 26.4% of women did not have access to prenatal care or had it inappropriately, characterizing an increase in health risk since pregnancy associated with thalassemia can lead to gestational and pathological complications. Nowadays, there is no way to avoid parent