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Last Posted: Jan 29, 2024
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Towards Personalized Treatment in Hemophilia: The Role of Genetic Factors in Iron and Heme Control to Identify Patients at Risk for Haemophilic Arthropathy
LFD van Vulpen et al, JPM, January 26, 2024

From the abstract: "The treatment landscape for hemophilia is changing rapidly, creating opportunities for personalized treatment. As major morbidity is still caused by hemophilic arthropathy, understanding the factors affecting joint damage and joint damage progression might lead to more individualized treatment regimens. We investigated the association of HFE mutations or HMOX1 polymorphisms affecting iron/heme handling with radiographic joint damage in 252 hemophilia patients (severe and moderate). "

How do people inherit hemophilia?
Medical News Today, September 2023

From the website: "Hemophilia is a bleeding disorder that can affect the blood’s ability to clot properly. In most cases, people inherit the gene variations for hemophilia in an X-linked recessive inheritance pattern. Hemophilia is a condition that affects the blood’s ability to coagulate, or clot. It occurs when people have low amounts of a certain type of protein in the blood known as clotting factors. Clotting factors are responsible for normal blood clotting. "

Hemostasis - A Balancing Act.
H Marijke van den Berg et al. N Engl J Med 2023 8 (9) 853-856

From the paper: "It is reassuring that this first-in-class drug is effective in treating hemophilia A or B with inhibitors. Given its reported efficacy in both types of hemophilia without inhibitors, concizumab is evolving as an attractive therapeutic for all patients with hemophilia. In the bigger picture, these new treatment options need to be weighed against the possibility of cure of hemophilia through gene therapy: two adeno-associated virus (AAV) vector–based products have been approved for clinical use, and more are in the pipeline."

Phase 3 Trial of Concizumab in Hemophilia with Inhibitors.
Tadashi Matsushita et al. N Engl J Med 2023 8 (9) 783-794

From the abstract: "Concizumab is an anti–tissue factor pathway inhibitor monoclonal antibody designed to achieve hemostasis in all hemophilia types, with subcutaneous administration. We conducted the explorer7 trial to assess the safety and efficacy of concizumab in patients with hemophilia A or B with inhibitors. Among patients with hemophilia A or B with inhibitors, the annualized bleeding rate was lower with concizumab prophylaxis than with no prophylaxis."

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.