Pieltjes, S.E. (Sarah Eline) (2018) Course of Coagulation Factor VIII and Factor IX during Life of Haemophilia Carriers : A Pilot Study. thesis, Medicine.
Full text available on request.Abstract
Introduction: Haemophilia is a disorder of haemostasis with deficiency of coagulation factor VIII (haemophilia A) or factor IX (haemophilia B). The X-linked pattern of inheritance makes females carriers of the disease, often with lower coagulation factors than healthy females, explained by skewed X-lyonization. Limited research concerning carriers exists because historically they were not recognized as possibly symptomatic. In healthy individuals, coagulation factors increase during life. This study aims to discover whether this occurs in carriers as well, which would be relevant in terms of possible follow-up and treatment consequences. Methods: Retrospective FVIII/FIX measurements of obligate and/or DNA-proven haemophilia A and B carriers were collected from patient files. Both children and adults were included, with the exclusion of measurements after supplementation. Measurements during pregnancy were analysed separately. Primary analysis was performed with simple linear regression on age and FVIII/FIX. Results: 149 haemophilia A and 44 haemophilia B carriers were included. A significant increase (0.63 IU/dL/year, p=0.012) was found for FIX but not for FVIII. Carriers from families with severe haemophilia A showed significantly lower FVIII levels compared with mild haemophilia carriers. FVIII increased significantly during pregnancy (p=0.001), however, FIX did not. Repeated measuring showed carriers with initial levels between 50-60 IU/dL to be at risk for levels <50 IU/dL. Conclusion: FIX seems to rise significantly during life of haemophilia carriers. Further research is needed to confirm this effect seeing the pilot design of this study. Repeated measuring is especially valuable for carriers with borderline normal levels since variation in coagulation factors during life occurs.
| Item Type: | Thesis (Thesis) |
|---|---|
| Supervisor name: | Supervisor: and Meijer, Prof. dr. K. and University Medical Centre Groningen, Department of Haematolo and Division of Thrombosis and Haemostasis |
| Faculty: | Medical Sciences |
| Date Deposited: | 25 Jun 2020 10:51 |
| Last Modified: | 25 Jun 2020 10:51 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/1236 |
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