The thalassemia syndromes and pregnancy, molecular basis, clinical aspects, prenatal diagnosis

Thalassemies are the most common inherited disorders, occur at high frequency in endemic regions as the Mediterranean countries, Middle East, North Africa, Asia, and are associated with hypochromic, hemolytic anemia. For several years, immigrations increased the possibility of transferring the thalassemic genes to Europe and North America. A review of the pathophysiology and molecular basis of the thalassemias is presented in this paper. The obstetrics problems in B-Thalassemic tract pregnants as the various degree non iron dependent anemia and her complications in pregnancy and the risk of producing a homozygous child, are discussed. Hematological analysis (Hb, H, MCV, MCH, MCHC) of 141-B-Thalasemic trait pregnants and 129 normal controls in each trimester of pregnancy were performed. The carrier screening program and application of prenatal diagnosis with introducing in techniques of DNA analysis were shown. Diagnostic difficulties and trends in clinical management of thalassemic pregnants are discussed. The most frequent types of Greeks and Italians alleles were shown as well as the frequent mutations in 58 B-Thalassemia examined allels in Epirus.