The thalassemias are inherited defect in globin chain production leading to hypochromic microcytic anemia. There are about 100 geographically unique mutations that produce thalassemia phenotypes. Interestingly, these are found in areas where Plasmodium falciporum malaria was or is endemic. Thalassemia major is a life-threatening progressive hemolytic anemia. In untreated infants, the disease causes cardiac decompensation, profound weakness, expansion of marrow, thinning of bones, jaundice, organomegaly, and without treatment, death within about two years.
Older patients have growth retardation, delayed puberty, diabetes, and heart disease.
Laboratory findings include hypochromia, microcytosis, low hemoglobin, high serum iron, and high serum bilirubin. Regular blood transfusions are required to prevent or delay complications, but the transfusions themselves result in pathology. Thalassemia minor is characterized by chronic mild microcytic anemia, but no clinical symptoms. Cough may also occur. Liver enzymes and erythrocyte sedimentation rates are usually elevated, and anemia is common.