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Compound Heterozygosity for HKαα and an in Cis Deletion of Double α Genes Presents as α-Thalassemia Trait.

Hemoglobin - 1 Jan 2015

Wu Man-Yu, Li Jian, Li Shu-Chen, Li Ru, Liao Can, Li Dong-Zhi

Abstract excerpt

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...

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PMID: 26016901
DOI: 10.3109/03630269.2015.1039026

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SEA

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