Unusual Rearrangement of the α-Globin Gene Cluster Containing Both the −α3.7 and αααanti-4.2 Crossover Junctions: Clinical Diagnostic Implications and Possible Mechanisms

Wang, Wen; Chan, Amy Y.Y.; Chan, Li-Chong; S.K., Edmond; Chong, Samuel S.

doi:10.1373/clinchem.2005.054189

Cited by 30 publications

(36 citation statements)

References 8 publications

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“…On the basis of these results and those from previous reports (15,16), we deduced that cases 2, 8, and 9 might carry HKαα allele and case 11 might carry anti-HK allele. The same two-round nested PCR strategy used to confirm HKαα allele was carried out.…”

Section: Molecular Characterization Of Hkαα and Anti-hk Allelesupporting

confidence: 70%

“…Here, we report nine individuals with the HKαα allele. In addition to those genotypes reported in previous cases (15,16), our cases include a new genotype, Simultaneous double crossover generates both alleles, one crossover between the X2 and X1 boxes and the other between the Z2 and Z1 boxes. The primers used in the two-round nested polymerase chain reaction are indicated by arrows (the scale is not correct).…”

Section: Discussionmentioning

confidence: 99%

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Molecular characterization and clinical presentation of HKαα and anti‐HKαα alleles in southern Chinese subjects

Shang

Cai

et al. 2012

Clinical Genetics

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The HKαα allele is a rearrangement occurring in the α-globin gene cluster containing both the -α(3.7) and ααα(anti4.2) unequal crossover junctions. The anti-HKαα allele is the reciprocal product containing both the -α(4.2) and ααα(anti3.7) 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.

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Section: Molecular Characterization Of Hkαα and Anti-hk Allelesupporting

confidence: 70%

Section: Discussionmentioning

confidence: 99%

Molecular characterization and clinical presentation of HKαα and anti‐HKαα alleles in southern Chinese subjects

Shang

Cai

et al. 2012

Clinical Genetics

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“…To detect the HKaa allele, a tworound nested PCR strategy was used. The primers and the PCR reaction conditions were the same as in a previous study (4). The reverse dot-blot assays were carried out to screen the possible presence of common nondeletional a-thal point mutations and b-thal mutations with the methods described in our previous reports (7,8).…”

Section: Methodsmentioning

confidence: 99%

“…The HKaa (Hong Kongaa) allele is an unusual a-globin gene cluster containing both -a 3.7 and aaa anti 4.2 crossover deletion/insertion (4). The frequency of this allele has recently been reported in a Chinese population (5).…”

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confidence: 99%

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Compound Heterozygosity for HKααand anin CisDeletion of DoubleαGenes Presents asα-Thalassemia Trait

et al. 2015

Hemoglobin

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The HKαα (Hong Kongαα) allele is an unusual rearrangement of the α-globin gene cluster containing both the -α(3.7) (rightward) and ααα(anti 4.2) crossover deletion/insertion. During our thalassemia screening program, we identified 10 adult individuals and two newborns who were confirmed to be compound heterozygotes for HKαα and the Southeast Asian deletion (- -(SEA)). Their hematological data showed a typical α-thalassemia (α-thal) trait. The routine gap-polymerase chain reaction (gap-PCR) based assay revealed the presence of -α(3.7), - -(SEA) and normal α2 alleles in the α-globin gene clusters. These confusing findings indicated the existence of more complex derivative alleles produced possibly by repeated unequal crossover of recombinant alleles between α-globin gene clusters. A two-round nested PCR strategy confirmed the diagnosis of HKαα. Considering the large-scale population screening in the thalassemia-prevalent regions in China, the current diagnostic strategy might need to be modified accordingly. The detection of HKαα would improve accuracy in genetic counseling, especially in couples where one partner was a - -(SEA) carrier and the other carries a -α(3.7) deletion identified by routine gap-PCR methods.

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Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study

Huang

Chen

et al. 2021

Clinical Laboratory Analysis

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Unusual Rearrangement of the α-Globin Gene Cluster Containing Both the −α3.7 and αααanti-4.2 Crossover Junctions: Clinical Diagnostic Implications and Possible Mechanisms

Cited by 30 publications

References 8 publications

Molecular characterization and clinical presentation of HKαα and anti‐HKαα alleles in southern Chinese subjects

Molecular characterization and clinical presentation of HKαα and anti‐HKαα alleles in southern Chinese subjects

Compound Heterozygosity for HKααand anin CisDeletion of DoubleαGenes Presents asα-Thalassemia Trait

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study

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