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Hemophilia: From Pathophysiology to Novel Therapies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 July 2025 | Viewed by 1398

Special Issue Editor


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Guest Editor
1. Professor Emeritus in Laboratory Medicine and Internal Medicine, College of Medicine, National Taiwan University, Taipei 100, Taiwan
2. Medical Doctor of the Hemophilia Treatment and Thrombosis Center, Changhua Christian Hospital, Changhua, Taipei 100, Taiwan
3. Department of Laboratory Medicine, National Taiwan University Hospital, Taipei 100, Taiwan
Interests: hemophilia; de novo variant of hemophilia and vonWillebrand disease; rare bleeding disorders; thrombosis; general hematology

Special Issue Information

Dear Colleagues,

Hemophilia is the most common X-linked congenital bleeding disorder in humans, caused by the deficiency or dysfunction of factor VIII or factor IX. The mainstay of treatment and current standard of care for hemophilia is regular prophylaxis with the administration of factor VIII/IX, mimics of clotting factors, and coagulation rebalancing agent; gene therapy is also used. We notice that most authors, physicians, and scientists devote themselves to clinical trials of these new therapeutic agents. Very few physicians are interested in and pay attention to how these new agents are created; the pathogenesis of hemophilia is even less studied. However, the latter is more fundamental and will be more instructive to young researchers, although treatments for hemophilia and the achievement of better quality of life are important. We would like to invite and encourage researchers to submit articles focusing on the development of novel therapies in hemophilia, the evolution from basic science to clinical translation, and molecular studies on the pathogenesis of hemophilia.

Prof. Dr. Mingching Shen
Guest Editor

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Keywords

  • hemophilia
  • novel therapy in hemophilia
  • ultra-long half life clotting factor
  • clotting factor mimics
  • coagulation rebalancing agent
  • gene therapy
  • pathogenesis of hemophilia
  • molecular biology of hemophilia

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Published Papers (1 paper)

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Research

12 pages, 2471 KiB  
Article
Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females
by Ming Chen, Ming-Ching Shen, Shun-Ping Chang, Gwo-Chin Ma, Dong-Jay Lee and Adeline Yan
Int. J. Mol. Sci. 2025, 26(3), 891; https://doi.org/10.3390/ijms26030891 - 22 Jan 2025
Viewed by 964
Abstract
F8 gene inversion variants originate in male germ cells during spermatogenesis. Our recent study revealed that de novo variants (DNVs) caused F8 noninversion variants (NIVs) in sporadic hemophilia A (HA). Here, we conducted a direct clinical determination of sex differences in the origin [...] Read more.
F8 gene inversion variants originate in male germ cells during spermatogenesis. Our recent study revealed that de novo variants (DNVs) caused F8 noninversion variants (NIVs) in sporadic hemophilia A (HA). Here, we conducted a direct clinical determination of sex differences in the origin of sporadic HA-NIV according to the data of two new HA-NIV families, as well as of the families demonstrated in the previous study. Of the 126 registered families with HA, 23 were eligible for inclusion. We conducted a linkage analysis with F8 gene markers and an amplification refractory mutation system–quantitative polymerase chain reaction to confirm the origin of the sporadic NIVs (~0% mutant cells) or the presence of a mosaic variant, requiring further confirmation of the origin in the parent. Two sporadic DNV events were determined. One event occurred in grandparents, consisting of five maternal grandmothers and seven maternal grandfathers, who were the origins; their respective daughters became carrier mothers who gave birth to probands. The other event included 11 mothers, who were the origins exclusively; their respective sons became probands. In this study, we found that sporadic HA-NIVs originate mostly from females (16 out of 23). Our study contributes to a better understanding of the genetic pathogenesis of HA. Full article
(This article belongs to the Special Issue Hemophilia: From Pathophysiology to Novel Therapies)
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