The thalassemia syndromes

Clinical features of thalassemia are reviewed while focusing on evaluation and care of the pregnant patient and prenatal diagnosis and genetic counseling, prenatal diagnosis, and newborn screening.

Abstract

The thalassemias are a diverse group of hereditary anemias caused by decreased or absent production of one type of globin chain—most commonly either the α or β globin chain. Thus α-thalassemia is characterized by deficient synthesis of α globin, and β-thalassemia is characterized by reduced or absent production of β globin. The resulting syndromes range from asymptomatic to severe microcytic anemias. Recognition of these disorders is important for the obstetrician to provide appropriate care for patients with a thalassemia syndrome. Genetic counseling, prenatal diagnosis, and newborn screening are all issues of importance in these inherited disorders. This article briefly will review the clinical features of thalassemia while focusing on evaluation and care of the pregnant patient and prenatal diagnosis.