Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization.

ABSTRACT: 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. A small number of deletions accounts for most α-thalassemias; in contrast, there are no predominant HBB deletions causing β-thalassemia. To facilitate the identification and cha

SUBMITTER: Sabath DE 

PROVIDER: S-EPMC4715224 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature