Thrombocytopenia 4 (THC4) is an extremely rare form of inherited thrombocytopenia caused by mutations in the gene encoding cytochrome c ( CYCS ). The mechanism leading to reduced blood platelets remains unclear, although an unrestrained megakaryocyte apoptosis as a consequence of CYCS alterations has been proposed. The report of a TCH4 family with a novel CYCS variant unravels clues on the pathogenesis of this disorder and spotlights back on the still‐discussed role of apoptosis in human platelet and megakaryocyte physiology. Commentary on: Štika et al. A novel thrombocytopenia‐4‐causing CYCS gene variant decreases caspase activity: Three‐generation study. Br J Haematol 2024 (Online ahead of print). doi: 10.1111/bjh.19694 .
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Zaninetti et al. (2024) studied this question.
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