Heterozygous HBA 3.7 kb Deletion

**Semantic type:** Cell or Molecular Dysfunction

**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.

**Synonyms:** - -a3.7/aa - HBA1 - HBA deletion (- a3.7 / aa) - Heterozygous (-a3.7/aa) - Heterozygous Alpha Globin 3.7 kb Deletion - Heterozygous HBA 3.7 kb Rightward Deletion - Heterozygous Hemoglobin Subunit Alpha 3.7 kb Deletion - Monozygotic Alpha Globin Gene Deletion - Monozygotic HBA Gene Deletion - Monozygotic Hemoglobin Subunit Alpha Gene Deletion