HOMOGENEITY OF THE Hb LEPORE GENE IN FR YUGOSLAVIA
Urosevic J1, Djureinovic T1, Poznanic J1, Cvorkov-Drazic M2, Bunjevacki G2, Janic D3, Krivokapic-Dokmanovic L3, Popovic Z1, Pavlovic S1
*Corresponding Author: Dr. Sonja Pavlovic, Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, 11000 Belgrade, FR Yugoslavia; Tel: +381 11 3976 445; Fax: +381 11 3975 808; E-mail: sonya@sezampro.yu
page: 29

DISCUSSION

Similar to previous studies, our data have shown that Hb Lepore is a thalassemic Hb variant. Three patients were compound heterozygotes for Hb Lepore and b-thal; they were affected with `111a thalassemia major syndrome. The other 15 heterozygous carriers of Hb Lepore had a clinical phenotype of thalassemia trait.

Hb Lepore is the most common Hb variant among the populations of the Former Yugoslavia [5,15]. Recent data showed that Hb Lepore was also the most frequent variant in FR Yugoslavia [16]. It was detected in almost 30% of patients affected with thalassemia-like syndromes in last 4 years in FR Yugoslavia [17]. Hb LBW is the most common type of Hb Lepore. It was found mainly in the Italian population, and also observed in populations of the Former Yugoslavia, Romania, Turkey, Cyprus, Greece, England, etc.

Two types of Hb Lepore among 122 families from the Former Yugoslavia have been observed (18). The Hb Lepore genes characterized in this study showed a prominent homogeneity. All of them were of the Hb LBW type. Additionally, all were associated with FW2 [IVS-II-74 (GT)].

The chromosomal background heterogeneity has been assessed in Hb LBW chromosomes, suggesting an independent and multicentric origin for the mutation [2,19]. Fioretti et al. [2] have shown that the Hb LBW gene associated with the [+ ] 3 subhaplotype and FW2, is the unique form found on the Adriatic Coast of Italy. Considering the geographic localization of this gene and historically documented migrations from eastern Mediterranean countries to the Italian coast, they have suggested that it may have spread from the Balkan countries to Italy. Our findings of the striking homogeneity of the Hb Lepore gene in the Yugoslav population strongly support this hypothesis. However, in confirming that the Hb LBW gene associated with the [+ ] 3 subhaplotype and FW2 origi­nates from the Balkan Peninsula, additional haplotype and framework analyses are needed, not only in the Yugoslav population but also in populations of other Balkan countries.




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