Thalassemias in Clinical Obstetrics

Abstract

for 3.4% of deaths of children younger than 5 years. 5 Traditionally, specific regions of the world (Mediterranean, Thalassemias encompass a group of inherited blood disorders characterized by reduced or absent synthesis of globin chains of hemoglobin. These conditions result in a range of phenotypic manifestations from asymptomatic to lethal. 1,2 Thalassemias are typically inherited in an autosomal recessive pattern where both parents are obligate carriers of the condition. As carriers, most individuals are asymptomatic. Carrier status in pregnancy is initially suspected after routine blood count detects variable degree of anemia. 1 Early recognition of carrier status in the parents is vital for determination of risk to the fetus. Accurate diagnosis enhances the ability of the obstetrician to describe options for prenatal diagnosis, to optimize the management of the pregnancy, and ultimately to minimize maternal and fetal complications. 3 Accurate prenatal diagnosis requires that the obstetrician must have a basic understanding of genetic and molecular considerations with thalassemias.