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

Location

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

Phenotype

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
Detection Methods: MLPA

Sequence Viewer

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Frequencies

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)

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