Severe congenital thrombocytopenia characterized by decreased platelet sialylation and moderate complement activation caused by novel compound heterozygous variants in GNE

We report two previously undescribed variants in causing severe congenital macrothrombocytopenia in a compound heterozygous state, as a consequence of decreased platelet sialylation. The decreased sialylation of platelets, leukocytes and erythrocytes affects the binding of FH, leading to moderate complement activation and increased hemolysis.