Alan Nurden: Genetic Complexity Behind Bleeding Severity in Glanzmann Thrombasthenia
Alan Nurden, Emeritus Research Director at CNRS, Co-Founder of the French National Reference Centre for Inherited Platelet Disorders (CRPP), shared a post on LinkedIn about recent article by Yang Zhang et al, published in Research and Practice in Thrombosis and Haemostasis (RPTH), adding:
“It is clear from my long experience of studying Glanzmann thrombasthenia that while uncovering the gene defects within ITGA2B and ITGB3, the genes encoding the platelet aIIbβ3 integrin, are essential for defining the genotype, and therefore the diagnosis of this rare bleeding disorder, they do not explain the wide variation in bleeding severity and frequency sometimes even occurring within the same family.
This well-composed research letter from Japan describes a patient concomitantly expressing gene variants for both GT and von Willebrand disease.
This is but another example of how secondary gene variants potentially influence the bleeding profile in GT and raises the question as to whether high-throughput gene screening should be applied to all patients as an aid to personalized medicine.
Indeed, I would now recommend this as a prelude to gene therapy, hopefully on the horizon, or even to prophylaxis by therapies that augment the fibrin-forming potential at bleeding sites and/or at sites of thrombo-inflammation.”
Title: Dual hemostatic defects in Glanzmann thrombasthenia and von Willebrand disease: functional characterization of ITGA2B and dominant-negative von Willebrand factor variants
Authors: Yang Zhang, Takahiro Shima, Ikumi Yamanaka, Saori Ueda, Aoi Nishida, Shinya Ohga, Yosuke Morodomi, Akihiko Numata, Tetsuya Eto, Taisuke Kanaji, Takashi Okamura, Koji Kato, Koichi Akashi, Yuya Kunisaki, Sachiko Kanaji
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