Utility of long-read sequencing to delineate a rare large deletion of beta-globin gene which escaped Sanger sequencing at prenatal diagnosis in a family clustered with hereditary persistence of fetal hemoglobin

Objective: Thalassemias, including alpha and beta thalassemia, are the most common monogenic inherited Mendelian disorder in Taiwan. The mutation spectrums of alpha and beta thalassemia are well known in the Taiwanese population. Among them, mutations with the format of large deletions are more prev...

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Autors principals:	Dong-Jay Lee, Shun-Ping Chang, Min-Jun Liao, Mei-Hui Lee, Wen-Hsiang Lin, Po-Chien Chen, Po-Yeh Chen, Yi-Shing Lin, Gwo-Chin Ma, Ming Chen
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2025-11-01
Col·lecció:	Taiwanese Journal of Obstetrics & Gynecology
Matèries:	Chromosome microarray Genetic counseling Hereditary persistence of fetal hemoglobin Long read sequencing Sanger sequencing
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S102845592500258X
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