Nederlandse Vereniging voor Klinische Chemie en Laboratoriumgeneeskunde
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Onderzoekslijn 48 Disorders of the red blood cell
Categorie Analytisch f. Moleculaire biologie
Trefwoord 1
Trefwoord 2
Omschrijving Red blood cells are optimally adapted to perform the binding and transport of oxygen, and its delivery to all tissues. Membrane, hemoglobin, and metabolic proteins interact to modulate oxygen transport, protect hemoglobin from oxidant-induced damage, and maintain the osmotic environment of the cell. The red cell’s production, function and/or survival may be perturbed by a number of rare hereditary disorders. We perform translational research on this field with the overall aim to better understand the complex pathophysiology of these rare diseases, and to improve diagnosis and therapy.
Current research projects focus on
1. The identification and functional characterization of novel genes and mutations in the field of hereditary (hemolytic) anemia and congenital secondary erythrocytosis.
2. Pathophysiology of pyruvate kinase deficiency.
3. The role of disturbed intracellular ion homeostasis in hereditary hemolytic anemia.
4. The clinical consequences of rare types of hemolytic anemias, in particular iron overload.
5. The interaction of (defective) red blood cells with other (blood) cells, in particular endothelial cells, macrophages and platelets.
6. The validation and applicability of the oxygen scan (PO2S): a novel functional hematology diagnostic system for the assesment of sickle cell disease severity and treatment effect using LoRRca (Laser-assisted Optical Rotational Cell Analyzer) technology (in collaboration with RR Mechatronics, Zwaag).

Onderzoeksleider laboratorium Prof.dr. W.W.(Wouter) van Solinge
Mede-onderzoeksleiders Dr R. van Wijk
Instituut Universitair Medisch Centrum Utrecht locatie AZU Utrecht
Periode 1-2006 - 1-2099