Talassemia α e suas implicações desportivas

Thalassemias are the most common inherited monogenic diseases worldwide. α-thalassemia is caused by the absence or decreased production of α-globin chains. The diagnosis of these pathologies is not always made as early as it should be, so there are cases of hemoglobinopathies diagnosed accidentally or when the symptoms appeared. A 13-year-old MSCV had a Sports Medicine appointment due to an episode of syncope during training. The entire cardiac study had no significant changes. In the blood count microcytosis was detected, which already existed in previous analytical studies. In the molecular study the alteration compatible with the diagnosis of α-thalassemia was detected. It is necessary to take a closer look at values on the blood count that are repeatedly altered. Asymptomatic carriers have clinical manifestations that are fruitful or even non-existent.