NCIt definition : A cytogenetic abnormality where one copy of chromosome 16 has a 3.7 kb chromosomal
deletion in the vicinity of 16p13.3, which is the region containing the 2 genes that
encode hemoglobin subunit alpha (HBA; alpha-globin), HBA1 and HBA2. This chromosomal
deletion either deletes one of these two genes (usually HBA1) or results in a single
copy of a functional, in-frame fusion of the two HBA genes.;
NCIt note : Heterozygous HBA 3.7 kb deletion may lead to decreases in hemoglobin subunit alpha
protein expression and is associated with the alpha thalassemia silent carrier phenotype.; The coding sequences for HBA1 and HBA2 are identical.;