PP182. DETERMINATION OF BETA-GLOBIN ALLELES IN ALBANIAN THALASSEMIC PATIENTS OF THE PEDIATRIC HOSPITAL OF TIRANA GRIGOR ZORAQI1*, Lila Shundi2, Eleni Anastasi3, Etleva Refatllari4 and Halim Kosova1.
1. Center of Mol. Diagn. and Gen. Research, University Hospital of Obstetrics and Gynecology of Tirana, Albania; 2. Institute of Public Health, Tirana, Albania; 3. Center of Thalassemia, Pediatric Hospital of Tirana, Albania; 4. Laboratory of Biochemistry, Pediatric Hospital of Tirana, Albania
*Corresponding Author: page: 129
Different studies were performed previously to identify the mutations in the globin genes in Albanian population (1-5) in laboratories outside of Albania. Our study is the first study completed in Albania, in the Center of Molecular Diagnosis and Genetic Research, at the University Hospital of Obstetrics and Gynecology of Tirana. It was performed by the sequencing of the entire beta globin gene, that can identify 176 mutations (ex.1, ex.2 and ex.3), or 136 mutations (ex.1 and ex.2). Moreover we can determine by sequencing Hb variants as HbC, HbE, Hb O-Arab, Hb Lepore and HbS.
There are about 600 thalassemic patients in Albania, which used periodically blood transfusion for their survival. Three Centers of blood transfusion function in Albania, in Pediatric Hospitals of Tirana (178 patients), Lushnje (376 patients) and Durres (26 patients). TiranaCenter is the reference center and have patients from diverse parts of Albania were the thalassemia is an endemic disease (32 from Tirana, 40 from Fieri, 30 from Kavaja, 18 from Vlora, 18 from Durres).
We investigated 78 thalassemic chromosomes, of 39 unrelated Albanian patients recovered periodically in the TiranaCenter. The method used included the amplification of ex1, ex2, ex3 by PCR, and subsequent sequencing in forward and reverse way.
We have identified 9 mutations of beta-globin gene, and 2 Hb variants (HbC and Hb Lepore). Three mutations IVS-I-110 (G>A)(0,418), COD 39 (C>T)(0,238) and COD6 (GAG>GTG)(0,194) covered about 85% of the beta-tal mutations, three other mutations IVS-I-6(T>C)(0,050), IVS-I-5(G>A)(0,025) and COD44(-C)(0,037) covered 11,2% and IVS-I-1(G>A), COD5(-CT), COD82/83(-C) covered 3,2% of the mutations. Frequencies of the mutations found in our study are similar to those in the previous studies (Boletini E, et al., Human Genetics., 93(2): 182, 1994; Lacerra G, et al., Hemoglobin, 17:523, 1993; Zisovski N, et al., Hemoglobin, 11:383, 1987; De Angioletti M, et al., Haematologica, 87(8); 1002, 2002; Babameto A, et al. 6th Balkan Meeting of Human Genetics. Thessaloniki, Greece. Abstract Book 2004; 26).
We have identified the beta-delta talasemia, Hb Lepore variant, for the first time in the population of Albania. Hb Lepore was of Boston type and represents a frequence of 1,5%, that is very different from other Ballkan countries as suggested by Efremov GD. Haematologica; 75 Suppl , 1990. Hb Lepore was identified in a thalassemic patient as compound heterozygote were the thalassemic allele was IVS-I-110 (G>A). Moreover we have identified the Hb C variant (COD6 GAG>AAG)(1,5%) in a compound heterozygote were the thalassemic allele was IVS-I-110 (G>A). The same genotypes of HbC were found from De Angioletti et al. (2002) in 2 other Albanian families. The Hb variants were identified in compound heterozygotes were the talasemic allele was IVS-I-110 (G>A). Drepanocytosis mutation COD6 (GAG>GTG) represents around 20% of beta globin gene mutations.