IthaID: 3433

Names and Sequences

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

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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.

External Links

No available links

Phenotype

Allele Phenotype:	Neutral
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

Publications / Origin

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
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

Created on 2019-06-10 15:03:22, Last reviewed on 2019-06-11 08:56:18 (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-06-10 15:03:22	The IthaGenes Curation Team	Created
2	2019-06-10 15:03:48	The IthaGenes Curation Team	Reviewed. Location added.
3	2019-06-10 15:11:03	The IthaGenes Curation Team	Reviewed. Reference added, Comment updated.
4	2019-06-10 15:13:23	The IthaGenes Curation Team	Reviewed.
5	2019-06-11 08:48:07	The IthaGenes Curation Team	Reviewed. Reference added.
6	2019-06-11 08:54:44	The IthaGenes Curation Team	Reviewed.
7	2019-06-11 08:55:30	The IthaGenes Curation Team	Reviewed.
8	2019-06-11 08:56:18	The IthaGenes Curation Team	Reviewed.

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