Homogeneity of the Hb Lepore gene in FR Yugoslavia

Abstract

Screening analysis of Yugoslav patients with suspected thalassemia syndromes in last 4 years revealed six patients who were Hb Lepore carriers. Three were compound heterozygotes for Hb Lepore and β-thalassemia, and they were affected with a thalassemia major syndrome. Family studies revealed 12 heterozygous relatives. All heterozygous carriers of Hb Lepore had a clinical phenotype of thalassemia trait. The detection of Hb Lepore was carried out by electrophoresis on cellulose acetate and confirmed by gap-polymerase chain reaction analysis of patients' DNA. Sequence analysis of all the Hb Lepore genes showed the same DNA sequence, indicating that the mutation was of the Hb Lepore-Boston-Washington type. Moreover, a single base substitution within the second intervening sequence [IVS-II-74 (G→T)] was detected in all analyzed hybrid genes. The molecular characteristics of this homogeneity represent additional data for the probable Balkan origin of this mutation.