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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DISCUSSION
The frequency of the 11 alleles detected in our
study are compared with those seen in other studies in
the Albanian population [4,7,8]. The results for the fivemost common alleles are more or less similar to those
in other studies.
A total of 379 chromosomes with a b-thal mutation
that were analyzed in all studies in the Albanian
population revealed 13 mutations, five of which (IVSI-
110, codon 39, IVS-I-6, IVS-I-1 and codon 44) accounted
for 92% of all b-thal chromosomes. The frequency
data for the alleles present in Albania have
been compared with those reported in neighboring
countries [9-17].
Frequencies of the most common b-thal alleles
(IVS-I-110, codon 39, IVS-I-6) were similar to those
of the surrounding Balkan and Mediterranean countries.
The IVS-I-110 mutation has its highest frequency
in the east Mediterranean region (Cyprus, Lebanon, Greece, Republic of Macedonia, Turkey), whereas the
codon 39 mutation is found mainly in the west (Sardinia,
Sicily, Spain). The mutation IVS-I-6, also known
as the Portuguese b-thal, is a distant third. It is present
in many populations without having an unusually
high frequency in any particular country [4]. Other and
rarer mutations have their origins in other populations,
such as codon 44 in Kurdish Jews. According to the method used for the detection of
mutations in the b-globin gene in our study, TTGE appears
to be a good choice in terms of throughput, costeffectiveness,
sensitivity and simplicity. In a population
with a wide heterogeneity, use of hybridization with
allele-specific probes or specific primers needs a long
time and a great number of probes or primers. To exclude
these problems, we adapted a new strategy for screening
b-globin gene mutations in a short time. Temporal temperature
gradient electrophoresis is a reliable method for
determining new or rare mutations in a population study.
The molecular screening approach was performed
in two steps: indirect scanning by TTGE followed by
enzyme digestion. We were able to find a total of 11
mutations: IVS I-110, codon 39, IVS I-6, IVS I-1,
codon 44, IVS-I-5 (G>C), IVS-II-1 (G>A), codon 5
(–CT), IVS-II-745 (C>G) and codons 82/83 (–G) by
applying this effective approach. Besides these mutations,
TTGE revealed one uncharacterized mutation,
IVS I-2, which was then sequenced.
Common point mutations such as IVS-I-110,
codon 39, IVS-I-6, IVS-I-1 and codon 44, were present
in nearly 90% of b-thal alleles, which will facilitate a
prenatal diagnostic program [18-21]. It makes possible
the detection of the heterozygotes for b-thal in the Albanian
population screening program and offers a preprenatal
diagnosis with a probability of 90% accuracy.
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