NCIt definition : A complex cytogenetic abnormality where one copy of chromosome 16 has undergone chromosomal
rearrangement 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 rearrangement
results in amplification of a 3.7 kb fragment containing of one of the HBA genes (usually
HBA2) and may lead to simultaneous deletion of the other HBA gene (usually HBA1).;
NCIt note : Heterozygous anti-3.7 HBA rearrangement may be associated with normal expression of
hemoglobin subunit alpha protein and is associated with the alpha thalassemia silent
carrier phenotype. Additionally the presence of this abnormality can affect the clinical
hematological presentation for patients with concurrent mutations associated with
beta-thalassemia.; The coding sequences for HBA1 and HBA2 are identical.;