ISTH 2023 | Dominant negative effects of heterozygous F13B mutations in FXIII deficiency

Haroon Javed, MSc, University Clinic Bonn, Bonn, Germany, discusses research into the dominant negative effects of heterozygous F13B gene mutations in mild factor XIII (FXIII) deficiency. Mr Javed explains the importance of FXIII in the clotting cascade, and how deficiency can arise from homozygous or heterozygous mutations in the F13B genes, resulting in severe and mild FXIII deficiency, respectively. The mechanisms by which heterozygous F13B mutations lead to mild FXIII deficiency are not well characterized. Mr Javed shares his group’s research into the extracellular and intracellular impact of heterozygous cysteine mutations in the F13B gene, explaining firstly how intracellular accumulation of FXIII under a particular mutation causes a dominant negative effect. Mr Javed goes on to discuss the other mutations that were tested and how they could impact the formation of the FXIII dimer, resulting in an extracellular dominant negative effect. This interview took place at the 31st Congress of the International Society on Thrombosis and Haemostasis (ISTH), held in Montréal, Canada.

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