PhD defence
Epidemiological Aspects and Complications of Congenital Hemophilia A in Brazil
- L. Lemos Jardim
- Date
- Wednesday 15 October 2025
- Time
- Location
-
Academy Building
Rapenburg 73
2311 GJ Leiden
Supervisor(s)
- Prof.dr J.G. van der Bom
- dr. S.C. Gouw
- Prof.dr. S.M. Rezende
Summary
Haemophilia A (HA) is a rare inherited bleeding disorder caused by a deficiency of clotting factor VIII (FVIII). Severe HA leads to spontaneous bleeding, resulting in pain, disability, and life-threatening complications. The development of inhibitors is the most serious treatment-related complication, affecting 10–30% of patients.
Despite its critical role in haemophilia management, the mechanisms underlying inhibitor development remain poorly understood. This thesis aimed to investigate the epidemiological profile of HA in Brazil, which has the fourth-largest haemophilia population globally, and to assess how disease complications affect mortality and quality of life. It also explores the immunological profile associated with inhibitor development in a prospective Brazilian cohort (the HEMFIL Study) and evaluates the long-term impact of prior inhibitors on joint health and health-related quality of life in a Dutch population.
Our findings indicate that early exposure to FVIII may trigger immunological pathways to antibody production. Furthermore, it was demonstrated that mortality among people with haemophilia has decreased over the years in Brazil and, with the increase in life expectancy of these patients, we began to observe the development of diseases commonly related to aging, such as cardiovascular disease and cancer. Nevertheless, intracranial hemorrhage persists as a significant cause of death among individuals with haemophilia in Brazil. Despite advancements in therapeutic access, there remains a substantial need for targeted interventions to minimize bleeding episodes, particularly in aging populations.
These findings emphasise the importance of early monitoring for inhibitors and support ongoing efforts to improve haemophilia care and patient quality of life.
PhD dissertations
Approximately one week after the defence, PhD dissertations by Leiden PhD students are available digitally through the Leiden Repository, that offers free access to these PhD dissertations. Please note that in some cases a dissertation may be under embargo temporarily and access to its full-text version will only be granted later.
Press enquiries (journalists only)
General information
Beadle's Office
pedel@bb.leidenuniv.nl
+31 71 527 7211