Frequencies of HKααand anti-HKααAlleles in Chinese Carriers of Silent Deletionalα-Thalassemia
| Autor: | Jian Li, Dong-Zhi Li, Man-Yu Wu, Yan Li, Shu-Chen Li |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Adult
Erythrocyte Indices Male China Heterozygote Genetic counseling Thalassemia Clinical Biochemistry Biology Young Adult Asian People Gene Frequency alpha-Globins alpha-Thalassemia Pregnancy Prenatal Diagnosis Gene duplication Gene cluster medicine Humans Mass Screening Allele Alleles Genetics (clinical) Sequence Deletion Genetics Biochemistry (medical) Hematology Middle Aged Gene deletion medicine.disease Molecular biology Clinical Practice Thalassemia screening Genetic Loci Female |
| Zdroj: | Hemoglobin. 39:407-411 |
| ISSN: | 1532-432X 0363-0269 |
| DOI: | 10.3109/03630269.2015.1071268 |
| Popis: | The HKαα (HongKongαα) 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/duplication. The anti-HKαα (anti-HongKongαα) allele is the reciprocal product containing both the -α(4.2) (leftward) and ααα(anti 3.7) unequal crossover deletion/duplication. In clinical practice of thalassemia screening, gap-polymerase chain reaction (gap-PCR) approaches are used to detect the common -α(3.7) and -α(4.2) deletions of α-thalassemia (α-thal). Because the HKαα and anti-HKαα alleles also contain the single α-globin gene deletion, individuals with these alleles would be misdiagnosed as -α(3.7) or -α(4.2) carriers. This would likely produce misleading or incorrect information in genetic counseling. In this study, we investigated the HKαα and anti-HKαα alleles in Chinese carriers of silent deletional α-thal, and reported their frequencies to be 2.27 and 0.35% in -α(3.7) and -α(4.2) carriers, respectively. Given the rarity of the HKαα and anti-HKαα alleles, a routine screening for these two rearrangements are unlikely to be necessary on most occasions. |
| Databáze: | OpenAIRE |
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