<i>MUC4</i> mutations promote a thrombotic phenotype in patients with paroxysmal nocturnal haemoglobinuria by increasing the deposition of terminal complement

MUC4 gene mutation increases the deposition of abnormally activated terminal complement in patients with PNH, thereby promoting the thrombotic phenotype in these patients. Consequently, the risk of thrombosis is further elevated in PNH patients with concurrent MUC4 mutations. In patients with PNH who have concurrent MUC4 mutations, the potential role of early complement inhibitor therapy in reducing thrombosis risk, as well as the value of prophylactic LMWH therapy as a potential alternative for those who are unable to receive complement inhibitor treatment, may warrant further study and prospective validation.