Hemoglobinopathies

Hemoglobinopathies are a group of common, inherited disorders of hemoglobin, resulting in the synthesis of structurally abnormal globin subunits. Some of these disorders may also cause a reduced synthesis of structurally normal globin subunits (thalassemias) but are few. Both may cause forms of anemia, including hemolytic anemia. Universal newborn screening panels include sickle cell anemia, the most common hemoglobinopathy; other hemoglobinopathies may not be identified until later in life. Pathologist evaluation of a smear of peripheral blood may show polychromasia, microcytes, schistocytes, or other abnormalities of red blood cells. Many hemoglobinopathies are diagnosed by electrophoresis testing.

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Last Update: July 2018