Prenatal Diagnosis for Severe Thalassemia

Abstract

Prenatal Diagnosis for Severe Thalassemia

Chadakarn Phaloprakarn MD

Department of Obstetrics and Gynecology, BMA Medical College and Vajira Hospital

Thalassemia is the most common genetic disease in Thailand. This disease results from abnormal hemoglobin synthesis in red blood cells. There are several forms of thalassemia. The severe form can cause intrauterine fetal death or early neonatal death, which may in turn lead to maternal preeclamptic condition. Some forms can cause chronic anemia, hepatosplenomegaly, bone changes, and growth retardation in postnatal life. The curative treatment of thalassemia is bone marrow transplantation, which is costly and may cause various complications. Therefore, current therapy in majority of patients is symptomatic treatment. An effective way to solve the thalassemia problem is to prevent a new case by screening for a carrier in all couples. In a circumstance that the fetus is at risk for severe thalassemia, a prenatal diagnosis should be performed in a suitable time, so that an appropriate management can be done.

Vajira Med J 2008 ; 52 : 67 - 71