Abstract

This epidemiological study was based on a hematological and a molecular analysis of 310 heterozygous β thalassemic and 75 carriers of Hb Lepore out of 3,000 microcythemic subjects from the Campania region of Italy. The molecular analysis of β chains and the δβ hybrid gene has shown different β chain defects, but only the Hb Lepore-Boston-Washington type in association with haplotypes I and V. The prevalence and distribution of these molecular defects in Campania show that they are linked to historical events and to the geographical characteristics of this region.

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