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World Haemophilia Day: Improving diagnosis through pharmacokinetics

Novel pharmacokinetic modelling techniques enable haemophilia treaters, and their patients, to make optimal decisions.

Health authorities say there is no extra risk from using blood donated by people vaccinated against Covid
Health authorities say there is no extra risk from using blood donated by people vaccinated against Covid - Copyright AFP/File PHILIPPE HUGUEN
Health authorities say there is no extra risk from using blood donated by people vaccinated against Covid - Copyright AFP/File PHILIPPE HUGUEN

Monday April, 17 is World Haemophilia Day. The 2023 theme is ‘Access for all: prevention of bleeds as the global standard of care’. The date of April 17 was selected in memory of Frank Schnabel, who was born on that day in 1942. Schnabel dedicated much of his life to improving the lives of people affected by bleeding disorders.

Haemophilia (or ‘hemophilia’) is a rare genetic disorder, primarily affecting men, where a person’s blood does not clot correctly because they do not produce a specific clotting factor. This can lead to life-threatening internal bleeds and painful joint bleeds and, over time, significantly reduces mobility. Treatment is through the use of traditional plasma-derived medicines and products created through recombinant technology. One goal of treatment is with preserving joint function by converting severe haemophilia into a clinically milder form of the disease.

An example of the type of research being conducted is provided by Dr. Andrea Edginton, Hallman Director at the University of Waterloo School of Pharmacy.  

Worldwide, around 1.1 million people are estimated to be affected by haemophilia, with 418,000 having severe haemophilia. Preventive treatment includes the replacement of missing clotting factors through frequent injections to avert bleeds.

The title of the 2023 theme – Access for all  – is an important reminder of the disparity within the global distribution of medicines. Due to the cost of medicines, only 15 to 25 percent of haemophilia patients receive adequate treatment. In addition, there is a significant lack of access, particularly in lower-income countries.

There are various reasons for this access issue, including the high-cost of medicines; a lack of visibility of haemophilia patients in various national healthcare systems; a low awareness of the disease within the medical profession; plus, the inadequate utilization of those clotting factors that are available.

To tackle this, the World Federation of Haemophilia (WFH) Humanitarian Aid Program donates coagulation products to low-income countries. There is a huge disparity in capacities for prompt and accurate diagnosis and for the provision of the necessary care for survival in these settings.

To help to improve diagnosis and treatment, Edginton has been using novel pharmacokinetic modelling techniques to enable haemophilia treaters, and their patients, to make optimal decisions about prophylactic clotting factor injections.

This includes operating the ‘Web-Accessible Population Pharmacokinetic Service Hemophilia’ (WAPPS-Hemo). According to this Edginton in a message sent to Digital Journal: “Free web-based platform allows treaters to input patient information and clotting factor levels in their blood following an injection. The clotting factor levels are calculated over time to pinpoint when patients need another injection to reduce dose and injection amounts.”

WAPPS-Hemo is the largest database repository in the world and is used in over 700 haemophilia treatment centres in over 50 countries.

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Written By

Dr. Tim Sandle is Digital Journal's Editor-at-Large for science news. Tim specializes in science, technology, environmental, business, and health journalism. He is additionally a practising microbiologist; and an author. He is also interested in history, politics and current affairs.

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