Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population

Babameto-Laku, A; Mitre, A; Berisha, S; Mokini, V; Roko, D

doi:10.2478/v10034-011-0017-0

Abstract

β-Thalassemia (β-thal) is a major public health problem in Albania as it is in many Mediterranean countries. We determined the different β-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 β-thal, 26 with sickle cell anemia or sickle cell β-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 β-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 β-thal in this population and offers a prenatal diagnosis with a probability of 90% accuracy.

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Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population

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