Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing

Inherited deletions of upstream regulatory elements of α-globin genes give rise to α-thalassemia, which is an autosomal recessive monogenic disease. However, conventional thalassemia target diagnosis often fails to identify these rare deletions. Here we reported a family with two previous pregnancie...

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Veröffentlicht in:	Blood cells, molecules, & diseases molecules, & diseases, 2023-11, Vol.103, p.102764-102764, Article 102764
Hauptverfasser:	Feng, Jianjiang, Mao, Aiping, Lu, Ye, Shi, Haihong, Meng, Wanli, Liang, Chen
Format:	Artikel
Sprache:	eng
Schlagworte:	Hb Bart's hydrops fetalis Long-read sequencing Prenatal diagnosis α-Globin regulatory elements α-Thalassemia
Online-Zugang:	Volltext
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