Prenatal Diagnosis of Hemoglobinopathies

Abstract

Hemoglobinopathies are frequently occurring disorders for which prenatal diagnosis is possible. Couples in which one parent has microcytic hypochromic red blood cells; is of Southeast Asian, Mediterranean, Middle Eastern, Indian, or African origin; or had one previous child with a known hemoglobinopathy or a previous hydropic stillbirth should be investigated. The hemoglobinopathies have been the paradigm of prenatal diagnosis, and the lessons learned from their study are now being applied to a range of other genetic disorders for which the responsible genes have been identified.