Update on the diagnosis and management of thalassemia

摘要

H&O When do you suspect the presence of thalassemia, and how is it diagnosed? MW We suspect thalassemia in people who have anemia and small red blood cells that cannot be explained by iron deficiency. The clinical presentation in a severely affected infant or toddler typically includes pallor, irritability, poor feeding and weight gain, and enlargement of the liver and/or spleen. The incidence of thalassemia is highest in patients of Mediterranean, Greek, Italian, Middle Eastern, Indian, East/Southeast Asian, and African ancestry. Therefore, family and ethnic history can be very helpful in leading to a correct diagnosis. Thalassemia carrier status confers resistance to malaria, and therefore the geographic distribution of these 2 disorders overlaps.