Investigation and treatment
Laboratory examination revealed severe anemia (Hemoglobin of 5 mg/dl), prolonged activated Partial thromboplastin time (aPTT) of 120.8 seconds (laboratory range, 24.2 – 36.3 seconds), normal Prothrombin time (PT) of 11 seconds (laboratory range, 11 – 17.7), and INR of 1.18. After identification of a prolonged aPTT, a 1:1 mixing study was performed and aPTT was corrected. In such setting, though it’s recommended to do assays for FVIII, FIX, FXI, and VWF, due to financial constraints only factor VIII level was determined and it came out to be 1.4%. With consideration of moderate Hemophilia A, he was started on recombinant factor VIII 750 IU BID and transfused 2 units of packed RBC. Subsequently, he showed some symptomatic improvement and the bleeding became intermittent but didn’t stop completely. Repeat aPTT tests were prolonged, 96.2 seconds and 112.8 seconds. In addition, the hemoglobin started to drop again. The initial consideration was development of inhibitors but repeat FVIII level was…. With the above finding, the possibility of co-occurrence of hemophilia B with hemophilia A was suspected and Factor IX level was determined. The result showed a factor IX level of 5.5% (mild deficiency). The diagnosis of combined deficiency of Factor 8 and 9 was made and factor IX 1500 IU IV daily was added to the initial treatment, and the supportive management also continued