Characterization of Deletions of the and Loci by Array Comparative Genomic Hybridization

Thalassemia is among the most common genetic diseases worldwide. α-Thalassemia is usually caused by deletion of one or more of the duplicated HBA genes on chromosome 16. In contrast, most β-thalassemia results from point mutations that decrease or eliminate expression of the HBB gene on chromosome 11. Deletions within the HBB locus result in thalassemia or hereditary persistence of fetal Hb. Although routine diagnostic testing cannot distinguish thalassemia deletions from point mutations, deletional hereditary persistence of fetal Hb is notable for having an elevated HbF level with a normal mean corpuscular volume.

Source: Journal of Molecular Diagnostics - November 20, 2015 Category: Pathology Authors: Daniel E. Sabath, M.A. Bender, Vijay G. Sankaran, Esther Vamos, Alex Kentsis, Hye-Son Yi, Harvey A. Greisman Tags: Regular Article Source Type: research