A Newly Discovered β°-Thalassemia (IVS-11-850, G→A) Mutation in a North European Family

Abstract

β-Thalassemia (thal) is one of the most common genetic disorders in the world and is caused by specific mutations within the β-globin gene and, less frequently, by the deletion of (part of) the β gene. A recently published list of alleles mentions over 160 point mutations and frameshifts, and more than 10 large deletions (1). β-Thal is common among Mediterranean populations, the Middle East, India, and the Far Eastern countries, but is rarely seen in North Europeans except for alleles which originated from the listed countries (2). Only a few, rare, mutations have been found in British persons; here we provide a short description of an American family of English-Scottish descent with six members having a β-thal heterozygosity.