IthaID: 300

Also known as: -α3.7

Comments: Rightward crossover between misaligned homologous Z boxes leads to the deletion of 3.7 kb DNA on one chromosome and the reciprocal triplicated α genes [IthaID: 2561] on another chromosome. The 3.7 kb deletion extends from the intron II of the α2 gene down to the intron II of the α1 gene, creating a single functional (fusion) gene. View [PMID: 14500599] for a schematic representation of the crossover between mispaired Z boxes. Prior to the exact deletion breakpoints analysis of α3.7 subtypes [PMID: 31199903], HGVS name of this variant was NG_000006.1:g.34164_37967del3804.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Heterozygous records (preview in IthaPhen)

1. Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D, Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype., The Journal of clinical investigation, 66(6), 1319-25, 1980
2. Wang W, Ma ES, Chan AY, Prior J, Erber WN, Chan LC, Chui DH, Chong SS, Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 alpha-globin gene triplications., Clin. Chem., 49(10), 1679-82, 2003
3. Borgio JF, Abdulazeez S, Almandil NB, Naserullah ZA, Al-Jarrash S, Al-Suliman AM, Elfakharay HI, Qaw FS, Alabdrabalnabi FI, Alkhalifah MA, Shakil Akhtar M, Qutub H, Al-Ali AK, The ‑α3.7 deletion in α‑globin genes increases the concentration of fetal hemoglobin and hemoglobin A2 in a Saudi Arabian population., Mol Med Rep, 17(1), 1879-1884, 2018
4. Charoenwijitkul T, Singha K, Fucharoen G, Sanchaisuriya K, Thepphitak P, Wintachai P, Karnpean R, Fucharoen S, Molecular characteristics of α-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics., Clin Biochem, 71(0), 31-37, 2019