Authors report no conflicts of interest.
Molecular characterization and clinical presentation of HKαα and anti-HKαα alleles in southern Chinese subjects
Article first published online: 10 OCT 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 5, pages 472–476, May 2013
How to Cite
Molecular characterization and clinical presentation of HKαα and anti-HKαα alleles in southern Chinese subjects., , , , , .
- Issue published online: 5 APR 2013
- Article first published online: 10 OCT 2012
- Accepted manuscript online: 18 SEP 2012 09:41AM EST
- Manuscript Revised: 14 SEP 2012
- Manuscript Accepted: 14 SEP 2012
- Manuscript Received: 14 JUN 2012
- National High Technology Research and Development Program of China (863 Program). Grant Number: 2011AA02A112
- The National Key Technology R&D Program. Grant Number: 2012BAI09B01
- Natural Science Fund of Guangdong Province. Grant Number: 9451051501002517
- α-globin gene rearrangement;
- anti-HKαα allele;
- HKαα allele;
- southern Chinese
The HKαα allele is a rearrangement occurring in the α-globin gene cluster containing both the -α3.7 and αααanti4.2 unequal crossover junctions. The anti-HKαα allele is the reciprocal product containing both the -α4.2 and αααanti3.7 unequal crossover junctions, which had been predicted but had not been detected previously. The phenotypic feature and population frequency of these two unusual alleles were not described. We report the identification of nine individuals carrying the HKαα allele and two individuals carrying the anti-HKαα allele in southern China and describe their phenotype and haplotype data. The molecular structures of HKαα allele and anti-HKαα allele were confirmed by two-round nested polymerase chain reaction assay. The mechanism of origin of both alleles is related to probably simultaneous double crossover. Heterozygotes of HKαα or anti-HKαα allele show a normal hematological phenotype. Finally, we report the carrier rates of these both alleles in the Guangxi Zhuang Autonomous Region of southern China, namely, ∼0.07% for the HKαα allele and ∼0.02% for the anti-HKαα allele.