[A premature infant with increased bleeding tendency: what if the family history of bleeding disorders is negative?].

Background: Haemophilia A is an X-chromosome recessive hereditary disorder and occurs in 1 in 5000 boys. In 30-50% of patients with haemophilia the family history of bleeding disorders is negative.

Case Description: We report on a premature male infant, born at 33 weeks of gestation, who exhibited prolonged bleeding from venipuncture sites the day after birth. The family history was negative for bleeding disorders. Initially he received vitamin K supplementation but, when the bleeding persisted, more detailed diagnostics revealed a prolonged aPTT. Factor VIII activity was 1% of the reference value and the neonate appeared to have a Grade I intraventricular haemorrhage on cerebral ultrasound. He was therefore treated with factor VIII.

Conclusion: Early recognition and diagnostics in neonates with an increased bleeding tendency is important, even when the family history of bleeding disorders is negative.