MOLECULAR GENETIC CHARACTERIZATION OF b-THALASSEMIA AND SICKLE CELL SYNDROME IN THE ALBANIAN POPULATION
Babameto-Laku A1,*, Mitre A2, Berisha S2, Mokini V1, Roko D1
*Corresponding Author: Anila Babameto-Laku, University Hospital Center “Mother Teresa”, Faculty of Medicine, Service of Medical Genetics, Rruga Dibres, 307, Tirana, Albania; Tel.: +68-20-94-170; Fax: +355-4-227-2782; E-mail: laku62@yahoo.com
page: 45
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Abstract

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.



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