Artificial intelligence for intelligent care - How machine learning algorithms can enhance the personalised treatment of patients with haemophilia A

Aug 3, 2026

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The thesis examines how machine learning approaches can improve personalised care for patients with haemophilia A, a rare X-linked bleeding disorder caused by deficient factor VIII and marked by impaired haemostasis and elevated bleeding risk. It reviews clinical background, patient severity classification using endogenous FVIII activity, and the evolution of treatment from plasma-derived and viral risks to recombinant therapies and modern options. The work frames how data-driven algorithms can support tailored prophylactic management and better outcomes across severe and moderate patients.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages24

Reading Time1 h 0 min

AccessFree to download

General introduction and thesis outline

1.1 Haemophilia A

1.1.1 Background

1.1.2 Evolving treatment of haemophilia A

UvA-DARE (Digital Academic Repository) Artificial intelligence for intelligent care How machine learning algorithms can enhance the personalised treatment of patients with haemophilia A Janssen, A. Publication date 2025 Link to publication Citation for published version (APA): Janssen, A. (2025) . Artificial intelligence for intelligent care: How machine learning algorithms can enhance the personalised treatment of patients with haemophilia A. [Thesis, fully internal, Universiteit van Amsterdam] . General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons) . Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: [https://uba.uva.nl/en/contact](https://uba.uva.nl/en/contact), or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. UvA-DARE is a service provided by the library of the University of Amsterdam ( [http](https://dare. uva. nl)[s](https://dare. uva. nl)[://dare. uva. nl](https://dare. uva. nl)) Download date:28 May 2025 GENERAL INTRODUCTION AND THESIS OUTLINE 1.1 haemophilia a 1.1.1 Background Bleeding disorders are rare conditions that are caused by a deficiency or qualitative defect of platelets or coagulation factors. These disorders involve a disruption in the process of coagulation, known as haemostasis, and can be differentiated into primary or secondary haemostatic disorders, fibrinolytic disorders, and bleeding disorders of unknown cause (where the precise aetiology has not (yet) been deciphered) . The most well-known bleeding disorders are haemophilia A (deficiency of factor VIII; FVIII), haemophilia B (deficiency in factor IX; FIX), and von Willebrand disease (deficiency of von Willebrand factor; VWF) . Amongst these three, von Willebrand disease is the most common with a prevalence rate of 1 per 100-1,000 individuals, compared to roughly 13 and 3 per 100,000 males for haemophilia A and B, respectively [1, 2] . Patients with haemophilia A have impaired haemostasis, resulting in an elevated risk of (spontaneous) bleeding. Haemophilia A is X-linked, meaning that it almost exclusively affects males. The severity of the disorder is characterised in terms of the residual endogenous factor activity level, which is measured in international units (IU) using one stage and chromogenic clotting assays. Patients with mild haemophilia A have endogenous FVIII activity levels of around 5-40 IU/dL, moderate patients have levels between 1-5 IU/dL, and patients with less than 1 IU/dL are classified as having severe haemophilia A. Without adequate treatment, haemophilia A patients present with frequent (spontaneous) bleeding typically in joints and muscles leading to arthropathy, and have an elevated risk of life threatening bleeding events such as gastrointestinal and intracranial bleeding. In general, most moderate and mild haemophilia A patients have a milder bleeding phenotype with bleeding usually occurring following (minor) trauma or dental and other medical procedures. In this thesis, we focus mainly on data collected from severe and moderate haemophilia A patients with a more severe bleeding phe- 1 Haemostasis involves the process of forming a clot atthe site of bloodvessel damage to stop bleeding. Women have two copies of the X chromosome. Although a deficiency in both F8 genes is unlikely, haemophilia carriers can still present with low FVIII levels and elevated bleeding

FAQs

What is haemophilia A and how is severity determined in the thesis?

Haemophilia A is a rare X-linked bleeding disorder caused by factor VIII deficiency, leading to impaired haemostasis and increased bleeding risk. Severity is classified by residual endogenous FVIII activity measured in IU using one-stage and chromogenic clotting assays.

How has treatment of haemophilia A evolved over time?

Treatment progressed from whole blood/plasma/cryoprecipitate before the 1970s, through lyophilized plasma concentrates that improved FVIII availability but increased blood-borne virus infections, to recombinant FVIII concentrates in the 1990s that improved safety and enabled home-based therapy.

What modern therapy advances does the thesis highlight?

The thesis points to extended half-life and VWF-decoupled recombinant FVIII developments, as well as non-factor replacement options such as emicizumab, aiming to improve drug durability and overall standard of care.

Aug 3, 2026

Upload by Rowan