IthaID: 300

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -α3.7 (type I) HGVS Name: NG_000006.1:g.34164_37967del3804
Hb Name: N/A Protein Info: N/A

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 (NC_000016.10:g.173385_177188), creating a single functional (fusion) gene. View [PMID: 14500599] for a schematic representation of the crossover between mispaired Z boxes.

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34164
Size: 3.804 kb
Fusion involves: α2, α1, α3.7 hybrid


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Fusion
Ethnic Origin: Worldwide
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.


Publications / Origin

  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 PubMed
  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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-06-10 14:04:12 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.