ArticleAnnals of translational medicine2022
Accurate genotype diagnosis of Hong Kongαα thalassemia based on third-generation sequencing.
Article in Annals of translational medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Third-generation sequencing technology in the prevention and control of thalassemia: Applications and advances.The Journal of international medical research · 2026Review
- Current research status of third-generation sequencing technology in thalassemia detection.Frontiers in pediatrics · 2025Review
- Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review.Frontiers in pediatrics · 2023Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The Hong Kongαα (HKαα) allele is a complex structural rearrangement of the α-globin gene containing -α Methods: Between January 2015 and June 2021, 32 patients suspected of having HKαα thalassemia were included in this study. Genomic DNA was extracted, and gap-polymerase chain reaction (PCR), two-round nested PCR, multiplex ligation-dependent probe amplification (MLPA), and TGS were used for thalassemia gene detection. Results: The results of HKαα/αα and HKαα/-α Conclusions: Long-read TGS is a reliable and efficient approach for accurate detection of HKαα thalassemia, which can be widely used in clinical practice. Accurate molecular diagnosis of HKαα thalassemia will benefit clinical genetic counseling and prenatal diagnosis.
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