G331(P) Haemophilia: a lot to learn from a near miss event

Abstract

Introduction A two year old girl presented with prolonged bleeding following a fall. A strong family history of haemophilia was ignored during visits to health professionals due to the misconception that female carriers are unaffected! She was extensively investigated and was found to have Factor VIII deficiency which did not respond to Tranexamic acid and Desmopressin. This was discovered three weeks prior to her preoperative assessment for an adenotonsillectomy. Routine pre op checks, which do not always involve clotting and the above misconception, could have affected her severely perioperatively. This case highlights the importance of detailed history taking including family history and remembering that Haemophilia can, and does affect females. Case report AG was born without complication, at term by forceps delivery. Mother had heavy postpartum bleeding. She developed obstructive sleep apnoea, and adeno-tonsillectomy was planned. Three weeks before her pre-operative assessment she fell, tearing her frenulum. Persistent bleeding led to a paediatric assessment. Initial investigation revealed her haemoglobin was 88, APTT 1.5 and APTT ratio 45 and rest normal. Further investigation revealed low Factor VIIIc levels (36), 72% of expected. Other factors were normal. Detailed history taking revealed a family history of Factor VIII deficiency (maternal grandmother: carrier, maternal aunt: affected). AG received Tranexamic Acid and a Desmopressin infusion, followed by a Factor VIII infusion at the Haematology unit due to persistent bleeding. Communications between ENT a haematology is ongoing to carry out a safe surgery. Conclusion This was a near miss event which will require ongoing care from a consultant haematologist. Clinicians need to be aware that Haemophilia can, and does, affect females. 28% of female carriers of Haemophilia A are known to have Factor VIII levels consistent with mild Haemophilia. This case should raise our awareness about thorough history taking, and updating our knowledge about Haemophilia, to avoid future catastrophes. There are also important implications for her mother. We recommend checking Factor VIII activity levels in all haemophilia carriers before haemostatic challenge, such as pregnancy.