Balkan Journal of Medical Genetics

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

RESULTS

Examples of the patterns produced by various mutations are presented in Figure 2. In all the samples studied from different families, the pathological alleles were identified and all the genotypes were determined. As a result, there were 68 patients with β-thal (of these, 16 were b-thal homozygotes and 52 were b-thal compound heterozygotes), 26 patients with sickle cell syndrome (of these, nine were bS homozygotes and 17 were bS/b-thal patients), and 11 bthal heterozygotes and three Hb S [b6(A3)Glu→Val, GAG>GTG] heterozygotes. Table1 lists the homozygous and heterozygous genotypes of patients with bthal and Table 2 lists the eleven b-thal mutations that were observed in 144 chromosomes. The IVS-I-110 (G>A) mutation was the most frequent b-thal allele in the patients with b-thal major (b-TM), followed by IVS-I-6 (T>C), codon 39 (C>T), IVS-I-1 (G>A) and codon 44 (–C). Nearly 90% of the chromosomes tested carried one of these five alleles. All of these mutations have been observed before in the Albanian population, except for the IVS-I-2 (T>C) mutation which was detected in fragment B in a patient with β-thal with framework 1/1; this patient was a compound heterozygote for IVS-I-2/ codon 44. The mother, with framework 1/1, also displayed a fragment B TTGE pattern different from that of the control with framework 1/3. DNA sequencing of this fragment led to the characterization of the mutation (Figure 3).

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