IthaID: 2569

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: ααα(anti-4.2) HGVS Name: NG_000006.1:g.(31957_31978)_(34525_34544)dup

Also known as: Triplicated α (anti-4.2)

Comments: Alpha-globin gene triplications are not associated with abnormal haematological parameters but may aggravate the phenotype of patients with beta-thalassaemia. Reciprocal recombination between mispaired X boxes results in an allele with the -α4.2 (leftward deletion) [ithaID=301]and an ααα(anti-4.2) triplication allele. The PCR primers used by Wang et al [PMID: 14500599] place the triplicated allele between positions 171094-171115 (HBA2 upstream) and 173662-173681 (HBA2 3'UTR) (GRCh38.p12), producing an amplicon of around 1.7 kb.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Anaemia [HP:0001903]


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Located at: α2

Other details

Type of Mutation: Duplication
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

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
  2. Trent RJ, Higgs DR, Clegg JB, Weatherall DJ, A new triplicated alpha-globin gene arrangement in man., Br. J. Haematol. , 49(1), 149-52, 1981
  3. 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
Created on 2015-12-07 12:08:12, Last reviewed on 2022-05-18 09:45:18 (Show full history)

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