C. Tersteeg PhD

Gene therapy for von Willebrand Disease

SUMMARY

von Willebrand disease (VWD) is the most common inherited bleeding disorder, caused by mutations in the von Willebrand factor (VWF) gene. These mutations can affect the biosynthesis, secretion, function or clearance of VWF. As a result, quantitative or qualitative abnormalities of VWF lead to the bleeding phenotype found in VWD patients. Current management of VWD aims at correcting the bleeding phenotype via the use of supportive therapy, stimulating the release of endogenous VWF reserves and implementation of replacement strategies. Despite current treatment options, VWD patients experience a substantial negative impact on their overall health-related quality-of-life (HRQoL). Development of long-term approaches to manage VWD would not only avoid the current limitations of short-term therapies but could also significantly ameliorate the HRQoL of VWD patients. Gene therapy for VWD offers the potential of a long-term, if not lifelong, correction of VWF deficiency. During the last two decades, gene therapy for VWD has been studied via different strategies. The aim of this review is to give an overview of the different strategies and improvements that were investigated to develop a gene therapy for VWD.

(BELG J HEMATOL 2023;14(8):326–30)

The impact of drone transport on blood quality

SUMMARY

Drone transport is employed in several countries to deliver blood products to remote locations difficult to access by cars. Additionally, it offers a swift and secure way of transporting blood tubes from collection sites to laboratories for subsequent analysis. However, during drone transport the blood is exposed to vibrations, g-forces and variable ambient temperatures. Ensuring the preservation of the quality of blood samples during aerial transportation is a crucial prerequisite for the widespread utilisation of drones for blood transportation. In this review, we will summarise the current knowledge on the impact of drone transport on hematological and biochemical parameters.

(BELG J HEMATOL 2023;14(7):274–7)

The biochemistry of platelet function regulation

SUMMARY

Blood platelets are playing a key role in maintaining the integrity of the vascular system or haemostasis, however they can become detrimental when activated at sites of e.g. atherosclerosis, potentially leading to thrombosis or occlusion with devastating effects. To prevent this, a number of antiplatelet agents is currently used in the clinic. However, all antiplatelet agents are accompanied with an increased risk of bleeding, and hence the search for better and safer compounds is ongoing. In this effort, a good understanding of the biochemistry of platelet activation is of primordial importance. In the present review, we intend to bring together the current knowledge on platelet behaviour in thrombosis and haemostasis in a coherent manner by subdividing the entire process into different steps: platelet adhesion, activation, amplification, aggregation, shape change and clot retraction, as well as inhibition of platelet activation and aggregation.

(BELG J HEMATOL 2020;11(6):240-5)

O04 THE PRESENCE OF ANTI-ADAMTS13 AUTO-ANTIBODIES DOES NOT CHANGE ADAMTS13 ANTIGEN LEVELS MEASURED BY AN IN HOUSE DEVELOPED ADAMTS13 ANTIGEN ELISA

P28 THE MECHANISM OF THE LOSS OF HMW VWF MULTIMERS AFTER LEFT VENTRICULAR ASSIST DEVICE IMPLANTATION IS DIFFERENT BETWEEN HUMANS AND SHEEP

A-130 INHIBITING ADAMTS13 ACTIVITY PREVENTS THE LOSS OF HIGH MOLECULAR WEIGHT VWF MULTIMERS IN AN IN VITRO LEFT VENTRICULAR ASSIST DEVICE

A-108 N-ACETYLCYSTEINE IN PRECLINICAL ANIMAL MODELS OF THROMBOTIC THROMBOCYTOPENIC PURPURA