Year: 2024
Type: article
Abstract: 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; 205: 2450-2458.
Source: British Journal of Haematology
DOI: 10.1111/bjh.19794
Authors: Carlo Zaninetti, Andreas Greinacher
Institutions: Universitätsmedizin Greifswald, Universität Greifswald
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,940
OpenAlex ID: W4402927048