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Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Thrombosis and haemostasis - 1 Dec 2023

Liu Yingdi, Li Dongzhi, Yu Dongyi, Liang Qiaowei, Chen Guilan, Li Fucheng, Gao Lu, Li Zhuo, Xie Tiantian, Wu Le, Mao Aiping, Wu Lingqian, Liang Desheng

Abstract excerpt

BACKGROUND: Hemophilia A (HA) is the most frequently occurring X-linked bleeding disorder caused by heterogeneous variants in the F8 gene, one of the largest genes known. Conventional molecular analysis of F8 requires a combination of assays, usually including long-range polymerase chain reaction (LR-PCR) or inverse-PCR for inversions, Sanger sequencing or next-generation sequencing for single-nucleotide variants...

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Identifiers

PMID: 37285902
DOI: 10.1055/a-2107-0702
PMCID: PMC10686748

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