- Therapeutic targets in sickle cell disease
M.H.J. van Oers
- Award date
- 20 October 2017
- Number of pages
- Document type
- PhD thesis
- Faculty of Medicine (AMC-UvA)
Sickle cell disease (SCD) is a chronic, hereditary disease of the red blood cell, caused by a genetic mutation in the hemoglobin. Every year, more than 300,000 children are born with this disease, making it one of the most common genetic disorders in the world. SCD is characterized by chronic anemia, frequent episodes of severe pains, irreversible damage to vital organs and a significantly reduced life expectancy.
The aim of this thesis is to gain further insight into the underlying pathophysiological mechanisms, associated complications and potential therapeutic targets of SCD. In the first part, we address the physical burden and the pathophysiological mechanisms of SCD, and provide an overview of potential treatments for SCD that have been evaluated so far. Part 2 focuses on oxidative stress as a novel therapeutic target, and discusses the results of an interventional study with the antioxidant N-acetylcysteine (NAC). In part 3, we concentrate on allo-immunization as a major complication of RBC transfusion therapy in SCD. We identify various potential risk factors of allo-immunization that may help in the prevention of this complication, ultimately adding to the safe use of vital RBC transfusions in SCD.
This thesis thereby adds to the advancement and clinical implementation of urgently needed, new treatment strategies for SCD, ultimately improving outcomes for patients worldwide.
Thesis (complete) (Embargo until 20 October 2019)
Chapter 2: Daily pain in adults with sickle cell disease: A different perspective (Embargo until 20 November 2017)
Chapter 6: Effects of oral N-acetylcysteine on oxidative stress in patients with sickle cell disease (Embargo until 20 October 2019)
Chapter 8: Non-classical FCGR2C haplotype is associated with protection from red blood cell allo-immunization in sickle cell disease (Embargo until 20 August 2018)
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