IthaID: 3432

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.

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Heterozygous records (preview in IthaPhen)

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