A Case Report on Delayed Presentation and Diagnosis of Mild Hemophilia A

Abstract

Background: Hemophilia A is a genetic bleeding disorder due to clotting factor VIII deficiency. A delay in diagnosis can result in an increase in morbidity and mortality. The natural history of milder forms of the disease is poorly understood. Therefore, the aim of this study was to enable early detection and management of patients with undiagnosed mild hemophilia A with recurrent episodes of bleeding only after major trauma or surgery. Method: To identify the etiology, we tested the serum D-dimer, serum ionized calcium, coagulation profile, mixing study, Lupus anticoagulant activity, anticardiolipin antibody panel, Von Willebrand workup, and platelet aggregation study. Result: The coagulation profile done showed persistent isolated prolongation of aPTT, followed by a mixing study which favored factor deficiency. This was then confirmed with a Factor Assay which reported Factor VIII deficiency. The patient was then supplemented with Factor VIII, after which he had no further episodes of bleeding and improved clinically.