Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?

doi:10.5858/arpa.2023-0382-OA

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Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?

Archives of pathology & laboratory medicine - 1 Jan 2025

Tang Haishen, Xiong Yi, Tang Jiaqi, Wang Xiaohong, Wang Ya, Huang Liping, Wang Runli, Wang Degang

Abstract excerpt

CONTEXT.—: Rare thalassemia subtypes are often undiagnosed because conventional testing methods can only identify 23 common types of α- and β-thalassemia. OBJECTIVE.—: To assess a comprehensive approach for the screening and diagnosis of rare thalassemia. DESIGN.—: The study cohort included 72 individuals with suspected rare thalassemia variants. Screening was conducted by next-generation sequencing (NGS)...

Topics

Humans
High-Throughput Nucleotide Sequencing
Female
Male
Adult
Adolescent
Child
Young Adult
beta-Thalassemia
Thalassemia
beta-Globins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

DNA Copy Number Variations

Child, Preschool

Middle Aged

alpha-Globins

Genetic Testing

Rare Diseases

Source

Open in PubMed

Identifiers

PMID: 38649152
DOI: 10.5858/arpa.2023-0382-OA

Genes

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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