IthaID: 3433

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: anti-Hkαα HGVS Name: N/A

Also known as:

Comments: The anti-HKαα allele is a rearrangement occurring in the α-globin gene cluster containing both the -α4.2 [IthaID: 301] and ααα(anti3.7) [IthaID: 2561] unequal crossover junctions. The anti-HKαα allele consists of two functional genes; α1 and α1/α2 (fusion) genes (See [PMID: 22989259] for a diagram illustrating the crossover that leads to the anti-HKαα allele). Heterozygosity for anti-HKαα presented with a normal haematological phenotype. Compound heterozygosity for anti-HKαα and an in cis deletion of double α genes (--SEA) presented as α-thalassaemia trait.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Fusion involves: α2, α1

Other details

Type of Mutation: Fusion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. De Wolf AM, Van Zundert TC, De Cooman S, Hendrickx JF, Theoretical effect of hyperventilation on speed of recovery and risk of rehypnotization following recovery - a GasMan® simulation., BMC Anesthesiol, 12(0), 22, 2012 PubMed
  2. Shang X, Li Q, Cai R, Huang J, Wei X, Xu X, Molecular characterization and clinical presentation of HKαα and anti-HKαα alleles in southern Chinese subjects., Clin. Genet., 83(5), 472-6, 2013 PubMed
Created on 2019-06-10 15:03:22, Last reviewed on 2019-06-11 08:56:18 (Show full history)

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