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