Article
A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing.
Hematology (Amsterdam, Netherlands) - 1 Dec 2020
Chen Junkun, Lin Shaobin, Gan Jinghui, Xin Xiaoqin, Huang Jungao
Abstract excerpt
OBJECTIVES: β-Thalassemia (β-thal) is a genetic disease of the blood caused by mutations in the β-globin gene. Conventional methods for detecting thalassemia variants often miss rare and novel variants. Identifying the rare and novel β-thal variants, especially in the high prevalence regions, would enable better disease prevention. METHODS: A Chinese family who had joined the Thalassemia Prevention Program was...
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