Thalassemias

Thalassemias are inherited hemoglobinopathies that arise from the unbalanced synthesis of globin chains, resulting in abnormal hemoglobin (Hb).    Thalassemias affect an estimated 5-7% of the worldwide population and are most common in individuals of Mediterranean, Middle Eastern, Southeast Asian, African, and African American descent.  The most common thalassemias are beta (β) thalassemia (caused by variants in the HBB gene that lead to decreased β globin) and alpha (α) thalassemia (caused by variants in the HBA1 and/or HBA2 genes that lead to decreased α globin).   Symptoms range from mild anemia to fatal hydrops fetalis.     Some forms of thalassemia may be associated with significant hemolysis. Laboratory testing for thalassemias includes screening and diagnosis via routine blood tests, structural Hb testing (eg, high-performance liquid chromatography [HPLC] or isoelectric focusing [IEF]), and genetic testing.

Tabs Content
Content Review: 
May 2019

Last Update: November 2019