" /> Heterozygous HBA 3.7 kb Deletion - CISMeF





Preferred Label : Heterozygous HBA 3.7 kb Deletion;

NCIt synonyms : Heterozygous HBA 3.7 kb Rightward Deletion; Monozygotic Hemoglobin Subunit Alpha Gene Deletion; Monozygotic Alpha Globin Gene Deletion; Heterozygous Hemoglobin Subunit Alpha 3.7 kb Deletion; Heterozygous Alpha Globin 3.7 kb Deletion; Monozygotic HBA Gene Deletion; -a3.7/aa; Heterozygous (-a3.7/aa);

NCIt related terms : HBA1 - HBA deletion (- a3.7 / aa);

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.;

NCI Metathesaurus CUI : CL1773752;

PubMed : 26593158;

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30/05/2025


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