-(α)^20.5 is the Host Frequent Large Deletion in the Puglia Region of Italy

Abstract

The α-thalassemias are a heterogeneous group of inherited disorders, characterized by a reduced or absent synthesis of human hemoglobin (Hb) α chains. The α-thalassemia (α-thal) phenotype is produced by different genetic determinants, classified as deletional or nondeletional defects. To date, more than 16 α-thal deletions have been described (1); most of them, ranging in size from 5.2 to more than 100 kb, abolish the function of both α genes on the same chromosome. Extensive deletions are also located 5′ to the α-globin gene cluster, and nondeletional defects were also identified but less frequently than deletional ones (2,3).