" /> Heterozygous Anti-3.7 HBA Rearrangement - CISMeF





Preferred Label : Heterozygous Anti-3.7 HBA Rearrangement;

NCIt synonyms : HBA Triplication; Monozygotic Alpha Globin Gene Amplification; Monozygotic Hemoglobin Subunit Alpha Gene Amplification; Alpha-Globin Gene Duplication; aaaanti-3.7 / aa; Monozygotic HBA Gene Amplification; Alpha Alpha Alpha Anti-3,7/Alpha Alpha; Heterozygous Alpha Alpha Alpha Anti-3,7;

NCIt related terms : HBA1 - HBA triplication (aaaanti-3.7 / aa);

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.;

NCI Metathesaurus CUI : CL1773753;

PubMed : 26593158;

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30/05/2025


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