Case
A 25-year-old soldier serving in the Uganda People’s Defense Force (UPDF) was referred for consultation to the hematology clinic due to abnormal bleeding. One month earlier, he bled excessively after an elective circumcision uneventfully performed by freehand. Bleeding started 12 hours after surgery and lasted for two weeks. To manage the bleeding, he was admitted to hospital, his wound explored, and an incisional hematoma evacuated. During hospitalization, he received intravenous tranexamic acid and vitamin K, plus intravenous antibiotics. His vital signs remained normal throughout.
In the hematology clinic, the patient reported no history of painful joint swelling, abnormal bruising, or bleeding and he had completed rigorous military training without any problems. Additionally, none of his family members including his mother, seven full siblings with 4 brothers, several maternal cousins, and three maternal uncles had experienced abnormal bleeding, bruising, or joint deformity.
He was of normal stature, weighed 69.8kg; a height of 183.6 cm and a normal body mass index (BMI) of 20.7m2. He had no joint swellings, tenderness or deformity and no skin or mucous membrane bruising. His circumcision wound was dry and clean.
Laboratory evaluation included haemoglobin of 14.8 g/dL; platelet count 257,000/µL; activated partial thromboplastin time (aPTT) 58 seconds (reference range 27–43 seconds); prothrombin time (PT) 13.9 seconds (reference range 11.5–15.5 seconds); and INR 1.25. Given his elevated aPTT, a mixing study with normal plasma was done which demonstrated correction of aPTT into the normal range (30 seconds). Subsequent factor VIII activity assay was < 1% and factor IX assay 104%. Similar results were obtained on repeat testing after one week in another laboratory. He was enrolled in the hemophilia clinic, from where he will receive on-demand treatment with factor VIII if he bleeds. He is back in the military barracks and his superiors have been apprised of his diagnosis and its implications.