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The FⅨ Gene Mutation Analysis of Hemophilia B in China Central and Western Regions

1Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China, 2Anhui No.2 Province People’s Hospital, Hefei, China, 3First Affiliated Hospital, University of Science and Technology of China, Hefei, China, 4The Affiliated Hospital of Guizhou Medical University, Guiyang, China, 5Chengdu Women’s and Children’s Central Hospital, Chengdu, China, 6Jiangxi Provincial Children’s Hospital, Nanchang, China, 7Xiangya Hospital, Central South University, Changsha, China

Abstract Number: PB0588

Meeting: ISTH 2021 Congress

Theme: Hemophilia and Rare Bleeding Disorders » Hemophilia - Clinical

Background: Hemophilia B (HB) is a rare disorder that is complex to diagnose and manage. It’s an X-linked congenital bleeding disorder caused by FⅨ gene mutations.

Aims: 1. To understand the genotype and molecular pathogenesis of HB patients in China central and western regions;   
2. To analyze the relationship between gene mutation and bleeding phenotype and inhibitor formation.

Methods: From March 2019 to January 2021, 123 patients with HB (mild 11, moderate 57, severe 55) were enrolled in six hemophilia centers. We analyzed FIX gene by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). SPSS 22.0 was used to analyze the data.

Results: 1. A total of 92 FⅨ gene mutations were detected in 123 patients with HB, with the detection rate of 99.2% (122/123);
2. The most common type of FⅨ gene mutation was point mutation (84.6%), among which missense mutation was the dominant type (65.4%). Serine protease region was the mutation hot spot  (53.2%);
3. This study found 13 novel mutations and enriched the mutation database;
4. The mutation types of patients with mild to moderate HB were mainly missense mutation, accounting for 81.8% and 68.4%, respectively; In severe HB, missense mutation (36.4%) and nonsense mutation (31.0%) were the main mutation types, and indel, duplication, insertion mutation were only found in severe HB patients;
5. 9 out of 110 (8.2%) HB patients were inhibitor positive, with genotype including 1 large deletion, 6 missense mutations, 1 small deletion and 1 nonsense mutations.

Conclusions: 1. The detection rate of FⅨ gene mutation in this study was 99.2%, and point mutation was the most common mutation type; Serine protease region was the hot spot of mutations;
2. HB patients showed significant genotype-phenotype heterogeneity;
3. The prevalence of inhibitors was 8.2%.
correspondence: Qun Hu
This work was funded by Pfizer.

To cite this abstract in AMA style:

Wang W, Xu L, Wu J, Jin J, Huang J, Zhang Q, Zhou M, Xu Z, Huang Y, Peng J, Hu Q. The FⅨ Gene Mutation Analysis of Hemophilia B in China Central and Western Regions [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/the-f%e2%85%b8-gene-mutation-analysis-of-hemophilia-b-in-china-central-and-western-regions/. Accessed December 11, 2023.

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