May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder in the spectrum of
myosin heavy chain-related disorders (MYH9-RD), characterized by congenital macrothrombocytopenia and white blood cell inclusions. MHA carries a potential risk of hemorrhagic complications.
Bleeding diathesis is usually mild, but sporadic, life-threatening events have been reported. Data regarding the
clinical course and outcomes of neonatal MYH9-RD are limited, and specific guidelines on
platelet transfusion in asymptomatic patients are lacking. We present monochorionic twins born preterm at 32 weeks of gestation to an MHA mother; both presented with severe
thrombocytopenia at birth. Peripheral blood smear demonstrated the presence of macrothrombocytes, and immunofluorescence confirmed the diagnosis of MHA. Close clinical monitoring excluded
bleeding complications, and serial
hemostatic assessments through a viscoelastic system demonstrated functionally normal primary hemostasis in both patients. Therefore, prophylactic
platelet transfusions were avoided. Whole
DNA sequencing confirmed the pathogenetic variant of MHA of maternal origin in both twins. Thromboelastography allowed real-time bedside
bleeding risk assessment and supported individualized transfusion management in preterm newborns at risk of
hemostatic impairment. This report suggests that dynamic and appropriate clotting monitoring may contribute to the more rational use of platelets' transfusions while preserving patients with hemorrhagic complications and potential transfusion-related side effects.