Review
Hematology
Hannah Fassel, Catherine McGuinn
Summary: Haemophilia is an inherited bleeding disorder caused by deficiency of coagulation factor VIII or IX. Traditional treatments involve replacing the missing factors, but face challenges due to short half-life and inhibitor development. Recent advances, such as factor concentrate half-life extension and gene therapy, offer new hope for improved quality of life and potential cure for haemophilia.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Hematology
Connie H. Miller, J. Michael Soucie, Vanessa R. Byams, Amanda B. Payne, Robert F. Sidonio, Tyler W. Buckner, Christopher J. Bean
Summary: Characterization of females with haemophilia receiving care at HTCs in the United States showed differences from males in severity, age, and infection history.
Review
Hematology
Connie H. Miller, Christopher J. Bean
Summary: In cases of hemophilia, women and girls may have genetic causes leading to the condition, with 16% of mild hemophilia A patients being female.
Article
Pharmacology & Pharmacy
Sjoerd F. Koopman, Tine M. H. J. Goedhart, Laura H. Bukkems, Trevor M. Mulders, Frank W. G. Leebeek, Karin Fijnvandraat, Michiel Coppens, Mary Mathias, Peter W. Collins, R. Campbell Tait, Catherine N. Bagot, Nicola Curry, Jeanette Payne, Pratima Chowdary, Marjon H. Cnossen, Ron A. A. Mathot
Summary: This study evaluated the predictive performance of a population pharmacokinetic (PK) model for a recombinant factor IX Fc fusion protein (rFIX-Fc) and developed a new model using real-world data. The published model significantly underpredicted FIX activity levels, while the new model better described rFIX-Fc PK, especially for children aged <12 years.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2023)
Article
Multidisciplinary Sciences
Romy M. W. de Laat-Kremers, Marisa Ninivaggi, Iris van Moort, Moniek de Maat, Bas de Laat
Summary: Factor (F) VIII deficiency in haemophilia A patients leads to reduced thrombin generation and a severe imbalance between procoagulant and anticoagulant processes, increasing the risk of bleeding. Targeting the anticoagulant pathway, such as with thrombin inhibitor antithrombin (AT), could restore the haemostatic balance, but individual variations in response to AT reduction suggest a need for personalized treatment. In silico simulations showed that lowering AT levels dose-dependently restored thrombin generation, indicating the potential future use of modeling thrombin dynamics in managing patients undergoing AT targeting therapy.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, Research & Experimental
Eva Funding, Gillian Lowe, Lone H. Poulsen, Susan Shapiro, Johannes Oldenburg, Daniel Eriksson, Aletta Falk, Carly Rich
Summary: This study evaluated the effectiveness of budesonide in relieving symptoms, improving quality of life, and reducing the number of acute attacks in patients with asthma. The results showed significant improvements in symptoms, quality of life, and the number of acute attacks in patients using budesonide.
ADVANCES IN THERAPY
(2023)
Article
Hematology
Johnny Mahlangu, Howard Levy, Martin Lee, Frank Del Greco
Summary: The study demonstrated that subcutaneous dalcinonacog alfa is effective in raising FIX levels into the mild haemophilia range, comparable to intravenous extended half-life FIX clotting factors. Thrombogenicity markers remained normal throughout prophylactic injections or showed some initial increases followed by decreases with continued dosing. Overall, the treatment was well tolerated with a manageable safety profile.
Article
Hematology
Kristina Kihlberg, Fariba Baghaei, Maria Bruzelius, Eva Funding, Pal Andre Holme, Riitta Lassila, Vuokko Nummi, Susanna Ranta, Mehdi Osooli, Erik Berntorp, Jan Astermark
Summary: The Nordic cohort of persons with severe haemophilia B is well treated by prophylaxis, but the goal of zero bleeds for all is not yet achieved. The findings suggest that patients with severe haemophilia B experience milder arthropathy compared to patients with severe haemophilia A.
Article
Hematology
John Puetz, Dunlei Cheng
Summary: The study analyzed 922 haemophilia carriers in the ATHNdataset and found that 74% of carriers reported a normal bleeding score. Logistic regression identified age, factor activity level, ethnicity, and region of residence as risk factors for an abnormal score.
Article
Hematology
Kristina Kihlberg, Fariba Baghaei, Maria Bruzelius, Eva Funding, Pal Andre Holme, Riitta Lassila, Vuokko Nummi, Susanna Ranta, Nadine Gretenkort Andersson, Erik Berntorp, Jan Astermark
Summary: This study aimed to assess the health-related quality of life in persons with haemophilia B (PwHB) compared to haemophilia A (PwHA), and to evaluate the impact of joint health on their quality of life. The results showed that both PwHB and PwHA reported impaired quality of life, and joint health had a significant negative impact on their quality of life.
Article
Hematology
Jan Astermark, Cedric Hermans, Monia Ezzalfani, Samuel Aballea, Elena Santagostino, Zalmai Hakimi, Jameel Nazir
Summary: The analysis revealed that long-term prophylaxis with rFIXFc is associated with significant improvements in pain and physical functioning over time. This adds to the existing evidence of overall HRQoL improvements in patients with hemophilia B treated with rFIXFc.
Review
Hematology
Maria Teresa Alvarez-Roman, Raquel Diaz Merchan, Roberto Carlos Raynero Mellado, Victor Jimenez-Yuste
Summary: This article presents a case study of a child with severe haemophilia B, who experienced frequent bleeds and joint problems. By changing the treatment regimen and using a long-acting haemophilia replacement therapy (IDELVION), the bleeding episodes were significantly reduced and joint condition improved.
CURRENT OPINION IN HEMATOLOGY
(2023)
Editorial Material
Hematology
Graca Almeida-Porada
Summary: This study demonstrates that the new bioengineered FIX transgene in gene therapy provides higher activity and superior hemostatic efficacy, potentially allowing for lower vector doses and increased safety in future clinical trials.
Article
Hematology
Rolf Ljung, Marloes de Kovel, H. Marijke van den Berg
Summary: Investigation on the implementation of primary prophylaxis in children with severe haemophilia based on real-life data from PedNet showed that the age at start of prophylaxis has decreased and some patients started prophylaxis before any joint bleed. Furthermore, there was a significant reduction in FVIII doses.
Article
Hematology
Neha Iyer, Ayah Al Qaryoute, Meghana Kacham, Pudur Jagadeeswaran
Summary: Gene and protein sequence analysis revealed that zebrafish f9a and f9b are homologous to human F9, while f9l is similar to human F10. Knockdown and immunodepletion of f9a and Fixa prolonged partial thromboplastin time, while knockdown of f9l and Fixl prolonged multiple coagulation tests. Age-dependent increases in expression of these genes were observed, suggesting potential use of zebrafish model for studying factors involved in aging-related gene expression.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)