ESPE Abstracts

Thalassemia is a common genetic blood disease that is characterized by a decrease or absence of normal globin chain synthesis. This results in an imbalance of alpha and beta globin chain synthesis, leading to ineffective erythropoiesis and hemolysis, which causes anemia. The severe form of thalassemia is called thalassemia major and is usually associated with lifelong transfusion-dependent anemia. The incidence rate of thalassemia is higher in the Middle East, and it is a majo...

Introduction: Thiamine-responsive megaloblastic anemia syndrome (TRMA) a rare autosomal recessive condition described by megaloblastic anemia, diabetes mellitus and progressive sensorineural hearing loss. The onset occurs between infancy and adolescence. Thiamine treatment correct the anemia, but the red blood cells remain macrocytic; the anemia can recur when thiamine treatment seized. Progressive sensorineural hearing loss can be started early in kids; it is...