Publication Name	World Journal of Hematology
Manuscript ID	121492
Country	Greece

Category	Hematology
Manuscript Type	Minireviews
Article Title	Molecular pathogenesis and therapeutic advances in haemophilia, an update of the current evidence
Manuscript Source	Invited Manuscript
All Author List	Konstantina Bolou, Zoey Kapsimali, Athina Dettoraki, Katia Michalopoulou, George Triantafyllou, Nektaria Karangeli, Maria Piagkou and Helen Pergantou
Funding Agency and Grant Number
Corresponding Author	George Triantafyllou, Department of Anatomy, School of Medicine, Faculty of Health Sciences, National and Kapodistrian University of Athens, 75 Mikras Asias Street, Goudi, Athens 11527, Attikí, Greece. georgerose406@gmail.com
Key Words	Haemophilia A; Haemophilia B; F8 gene; F9 gene; Molecular pathogenesis; Gene therapy; Adeno-associated virus; Non-factor replacement therapy; Emicizumab; Prophylaxis
Core Tip	The current comprehensive review synthesizes the current evidence of molecular pathogenesis of haemophilia A and B, while it presents the therapeutic strategies, their limitations and future directions. Advances in molecular genetics have defined a highly heterogeneous mutational spectrum in F8 and F9, including recurrent inversions, point mutations, small insertions or deletions, and large rearrangements. These variants underlie genotype-phenotype correlations. Therapeutic strategies have evolved from on-demand plasma-derived factor replacement to individualized prophylaxis with standard and extended half-life concentrates. Parallel progress in liver-directed adeno-associated viral gene therapy has enabled sustained endogenous expression of FVIII and FIX following a single infusion, with marked reductions in annualized bleeding rates and factor use.
Citation	Bolou K, Kapsimali Z, Dettoraki A, Michalopoulou K, Triantafyllou G, Karangeli N, Piagkou M, Pergantou H. Molecular pathogenesis and therapeutic advances in haemophilia, an update of the current evidence. World J Hematol 2026; In press

Received	2026-03-26 03:44
Peer-Review Started	2026-03-26 03:45
First Decision by Editorial Office Director	2026-04-02 09:29
Return for Revision	2026-04-02 09:29
Revised	2026-04-08 06:17
Publication Fee Transferred
Second Decision by Editor	2026-04-24 02:41
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2026-04-24 13:23
Articles in Press	2026-04-24 13:23
Edit the Manuscript by Language Editor
Typeset the Manuscript

ISSN	2218-6204 (online)
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Copyright	©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc.
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