Article
Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.
Thrombosis research - 1 Sept 2025
Teng Yanling, Zhang Wen, Zhu Huimin, Liu Yingdi, Linpeng Siyuan, Zhang Hongyun, Luo Jiaojiao, Huang Qinlin, Chen Siyi, Liu Yaning, Wang Yanji, Wen Juan, Liang Desheng, Li Zhuo, Wu Lingqian
Abstract excerpt
Hemophilia A (HA) is a bleeding disorder caused by pathogenic variants in the F8, which can impair FVIII activity by either affecting its protein structure or reducing its expression. Expanding the spectrum of F8 variants is essential for elucidating the genotype-phenotype relationship and facilitating accurate diagnosis. Data from 123 HA patients across 115 families were collected. Intron inversions were...
Topics
- Humans
- Hemophilia A
- Factor VIII
- Male
- Female
- Adult
- Child
- Adolescent
- Mutation
- Child, Preschool