Pediatric Hematology
Introduction
Clinical and translational research in hemophilia: inhibitor development, DDAVP response and phenotype of moderate and mild haemophilia is the main interest of this group. Hemophilia A (Factor VIII deficiency) is a rare bleeding disorder that is treated by intravenous administration of clotting factor concentrates. A major challenge in the treatment is the development of inhibiting antibodies (inhibitors), directed towards F VIII. Inhibitors block the action of F VIII and thereby increase morbidity and mortality.
This research line aims to identify clinical and genetic risk factors for inhibitor development, especially in mild/moderate hemophilia.
Clinical studies
- The INSIGHT study is an international cohort study performed in 34 Hemophilia Treatment Centers in 11 countries that has included 2700 moderate and mild hemophilia A patients. Genetic and clinical risk factors for inhibitor development will be identified in this cohort.
- Treatment of inhibitors in moderate and mild hemophilia is investigated in the TRIM study.
- DDAVP can be used as a treatment for bleedings circumventing the use of clotting factor concentrates, thereby reducing the risk of inhibitor development. The RISE study identifies predictors of DDAVP response in mild hemophilia A patients.
Allo-immunisation in Sickle Cell Disease
Sickle Cell Disease is a hereditary anemia caused by a mutation in the beta-globulin gene, that occurs predominantly in persons with African ancestry. Hallmarks of the disease are chronic hemolytic anemia and vascular occlusion, that may cause irreversible damage to all vital organs. STAR is a multicenter observational study aiming to unravel allo-antibody formation in patients with Sickle Cell Disease.
Clinical studies at Sanquin
Funding:
- PPOC projects (internal funding in competition)
- Projects at the AMC
