The changing face of the 'royal disease' - Medicolegal aspects of haemophilia

Abstract

Haemophilia represents a group of heritable disorders caused by deficiencies in plasma proteins that are involved in coagulation. The case of a two-year-old boy with an established diagnosis of haemophilia B is reported to demonstrate a rare cause of unexpected death. He had a recent history of epistaxis and was found unexpectedly dead. At autopsy the posterior pharynx was obstructed by blood clot with aspirated blood within the distal airways of the lungs, and melena throughout both small and large intestines. His death was due to haemorrhage and airway obstruction complicating epistaxis. The profile of individuals with haemophilia has been changing in recent years with less deaths from haemorrhage due to improved clinical management. As the life expectancy of these patients is increasing, forensic examiners will now have to consider not only possible haemorrhagic causes of death but will also have to determine the significance of more long standing infectious processes related to human immunodeficiency virus (HIV) and hepatitis C from contaminated transfusions, in addition to evaluating the role of the more usual diseases related to age.