Results 81 to 90 of about 68,267 (269)

Hemophilia Severity and Its Association With Mental Health and Health‐Related Quality of Life—Results From a Cross‐Sectional Multicenter Study

Haemophilia, EarlyView.
ABSTRACT Background Limited existing research on mental health and health‐related quality of life (HRQoL) in people with hemophilia (PwH) suggests these patients still may have poor mental health despite treatment advances significantly improving somatic outcomes.
Francesca Schmitt, Laura Maier, Stefan Lerch, Manuela Albisetti, Alice Trinchero, Lukas Graf, Heinz Hengartner, Pierre Fontana, Nicolas von der Weid, Katrin Scheinemann, Sylvia von Mackensen, Corinna Reichl, Marialuisa Cavelti, Ines Mürner‐Lavanchy, Johanna A. Kremer Hovinga, Michael Kaess, Mutlu Kartal‐Kaess   +16 more
wiley   +1 more source

Hemophilia is associated with accelerated biological aging

Haematologica
Hemophilia is a rare X-linked bleeding disorder caused by mutations in the F8 or F9 gene (hemophilia A or B), leading to deficient factor VIII or IX proteins, respectively.
Marina Trappl, Rafaela Vostatek, Manuel Salzmann, Daniel Kraemmer, Johanna Gebhart, Philipp Hohensinner, Ingrid Pabinger, Cihan Ay   +7 more
doaj   +1 more source

TNF‑α Gene Polymorphisms as Determinants of Alloantibody Emergence in Hemophilia: A Systematic Review and Meta‐Analysis

Haemophilia, EarlyView.
ABSTRACT Introduction Inhibitor development remains one of the most serious complications of replacement therapy in patients with hemophilia. Tumour necrosis factor‐alpha (TNF‐α) is a key pro‐inflammatory cytokine, and its genetic variants have been implicated in immune‐related conditions.
Alessandra Faustino da Conceição Bezerra, Natã Abner Andrade Carito de Sousa, Suely Meireles Rezende, Renan Pedra de Souza   +3 more
wiley   +1 more source

Why is the uptake of gene therapy in hemophilia less than expected?

Research and Practice in Thrombosis and Haemostasis
Gene therapy has held promise to cure hemophilia since factor (F)VIII and FIX were cloned more than 40 years ago. However, scientific understanding of the adeno-associated virus, the predominant vector used in gene therapy, has been insufficient to ...
Glenn F. Pierce, Mark Skinner, Brian O’Mahony, Dawn Rotellini, Radoslaw Kaczmarek   +4 more
doaj   +1 more source

Use of andexanet alfa: A British Society for Haematology position statement

British Journal of Haematology, EarlyView.
Richard J. Buka, Deepa J. Arachchillage, Catherine N. Bagot, Gary Benson, Charlotte A. Bradbury, Nicola Curry, Beverley J. Hunt, David J. Sutton, Mari R. Thomas, John Paul Westwood, Karen Breen   +10 more
wiley   +1 more source

National Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population

Haemophilia, EarlyView.
ABSTRACT Introduction The National Bleeding Disorder Foundation (NBDF) Medical and Scientific Advisory Council (MASAC) was formed in 1954 and issues recommendations and advisories pertinent to the bleeding disorders community. MASAC is comprised of > 25 rotating members from different medical disciplines and lived experience experts.
Glaivy Batsuli, Magdalena D. Lewandowska, Ming Y. Lim, Kelly Tickle, Maureen K. Baldwin, Rose Bender, Jennifer Davila, Brendan Hayes, Amanda Jacobson‐Kelly, Peter Kouides, Michele P. Lambert, Shilpa Nataraj, Michelle Sholzberg, Roona Sinha, Hanny Al‐Samkari, Amy L. Dunn   +15 more
wiley   +1 more source

Bringing Gene Therapy Into Real World Clinical Practice

Haemophilia, EarlyView.
ABSTRACT Introduction Adeno‐associated virus (AAV)‐based gene therapy for haemophilia has shifted therapeutic paradigms by enabling hepatic gene transfer, restoring endogenous clotting factor expression, and reducing reliance on conventional prophylactic treatments. Two products, valoctocogene roxaparvovec (haemophilia A) and etranacogene dezaparvovec (
Wolfgang Miesbach, Pratima Chowdary, Margareth C. Ozelo   +2 more
wiley   +1 more source

GENETIC DIAGNOSTICS OF HEMOPHILIA A

Zdravniški Vestnik, 2004
Background. Hemophilia A is a chromosome X-linked bleeding disorder due to mutations in the FVIII gene. There are 163 hemophilia A patients in Slovene registry for Hemophilia.
Maruša Debeljak, Majda Benedik Dolničar, Lana Strmecki   +2 more
doaj  

FVIIIa Mimetics: New Approaches and Next‐Generation Initiatives

Haemophilia, EarlyView.
ABSTRACT Emicizumab has revolutionized hemophilia A care, yet limitations regarding the “ceiling” of hemostatic efficacy (equivalent to mild hemophilia) and global access persist. This review critically examines two distinct paradigms shaping the future of care: Innovation and Access. Regarding innovation, we synthesize the latest clinical data on next‐
Tadashi Matsushita, Keiji Nogami, Chandrakala Shanmukhaiah   +2 more
wiley   +1 more source

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3

Platelets, 2020
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human HPS genes, characterized by oculocutaneous albinism (OCA) and bleeding diathesis associated to platelet δ-storage pool defect (SPD).
Anna Lecchi, Silvia La Marca, Eti A Femia, Antonia Lenz, Doris Boeckelmann, Andrea Artoni, Flora Peyvandi, Barbara Zieger   +7 more
doaj   +1 more source