IthaID: 3432

Names and Sequences

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

Also known as:

Comments: The HKαα allele results from a complex rearrangement of the α-globin gene cluster containing both the -α3.7 [IthaID: 300] and ααα(anti 4.2) [IthaID: 2569] unequal crossover junctions. The HKαα allele consists of two functional genes; α2 and α2/α1 (fusion) genes (See [PMID: 22989259] for a diagram illustrating the crossover that leads to the HKαα allele). Mainly found in a heterozygous state with a normal hematological phenotype. The α-globin mRNA level of the HKαα allele heterozygotes (HKαα/αα) was similar to that of normal individuals (αα/αα). Compound heterozygosity for HKαα and an in cis deletion of double α genes (--SEA) presented as α-thalassaemia trait. Heterozygosity for HKαα and β-thalassaemia presented with symptoms of β-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, α3.7 hybrid

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Li Z, Cai S, Rong K, Song G, Li Y, Guo R, The first compound heterozygosity for HKalpha alpha allele and Southeast Asian deletion allele., Clin. Biochem., 40(0), 407-10, 2007 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
  3. Wu MY, Li J, Li SC, Li R, Liao C, Li DZ, Compound Heterozygosity for HKαα and an in Cis Deletion of Double α Genes Presents as α-Thalassemia Trait., Hemoglobin, 39(4), 256-9, 2015 PubMed
  4. Zhang M, Huang H, Chen M, Chen L, Wang Y, Lin N, Li Y, Chen X, Wang L, Lin Y, Xu L, [Variant analysis for patients from Fujian area with Hong Kong αα type thalassemia]., Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 36(4), 297-300, 2019 PubMed
Created on 2019-06-10 14:57:54, Last reviewed on 2019-06-11 08:53:35 (Show full history)

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