Genetically confirmed severe hemophilia A in a preterm infant: a case report

Severe hemophilia A is exceptionally rare among preterm infants. Qwing to immature coagulation system and nonspecific bleeding manifestations, the condition is readily misdiagnosed as other neonatal hemorrhagic disorders, such as vitamin K deficiency, neonatal sepsis and thrombocytopenia. Delayed diagnosis will greatly increase the risk of severe complications, particularly intracranial hemorrhage. Herein, we report a case of genetically confirmed severe hemophilia A in a 34-week preterm infant without family history of hemophilia. Treatment comprised sequential adminnistration of coagulation factor VIII repalcement and emicizumab. We futher analyze the clinical characteristics, diagnostic difficulties and standardized management principles of hemophilia A in preterm infants, so as to improve clinicians' awareness, reduce misdiagnosis and missed diagnosis, and optimize the long-term prognosis of affected infants.