MOLECULAR GENETIC CHARACTERIZATION OF b-THALASSEMIA AND SICKLE CELL SYNDROME IN THE ALBANIAN POPULATION

b-Thalassemia (b-thal) is a major public health problem in Albania as it is in many Mediterranean countries. We determined the different b-thal alleles that are present in the Albanian population by using the temporal temperature gradient electrophoresis (TTGE) method because of its high throughput, cost-effectiveness, sensitivity and simplicity. DNA from blood of 68 patients with b-thal, 26 with sickle cell anemia or sickle cell b-thal, 54 parents of these patients and 14 heterozygotes related to these families. We found the IVS-I-110 (G>A), codon 39 (C>T), IVS-I-6 (T>C), IVS-I-1 (G>A) and codon 44 (–C) mutations that accounted for nearly 90% of the b-thal alleles. Their frequencies were similar to those found in other studies in the Albanian population. This method has permitted the detection of heterozygotes for b-thal in this population and offers a prenatal diagnosis with a probability of 90% accuracy.