Haemoglobin Lepore Trait: Haematological and Structural Studies on the Italian Population

Publisher Website
Google Scholar
Abstract
Hematological data on 59 heterozygotes for Hb Lepore and 10 double heterozygotes for Hb Lepore and .beta.-thalassemia from 36 Italian families are reported. The red cell indices are defined and compared with those of groups of non-thalassemic and .beta.-thalassemic subjects of comparable number, age and sex distribution. The relative level of each Hb fraction and the absolute production of single polypeptide chains are calculated in order to compare the expression of the non-.alpha. chain genes in Hb Lepore trait and .beta.-thalassemia. Structural studies demonstrate that the Hb Lepore is of the Boston type (.delta.87 .beta.116) in all subjects, confirming that this type of fusion variant is probably the only one which occurs in Mediterranean populations. The distribution and incidence of the Lepore hemoglobinopathy are discussed.