Aclinico- haematological study of factor IX deficiency. Haemophilia B

ABSTRACT

A total of 100 cases of hereditary coagulation disorders were investigated in the city of Lahore - Punjab. Out of them 38 were found to have factor IX deficiency, Haemophilia B. All were males. 25 patients were children below the age of 12 years where as 13 were adults. Common presenting symptoms in these patients were easy bruising, prolonged bleeding from cuts, post circumcision bleeding, haemarthrosis, and haemotoma formation. Clotting time and Activated partial thromboplastin time were prolonged in all the cases. Mixing experiments were performed on 38 cases and all [100%] showed partial or complete correction of APTT with serum. A mild to moderate reduction of factor IX level was found in most of the cases. Only 3 patients had factor IX level of less than 2 U/dl i.e. severe deficiency of factor IX. Message to be conveyed is that, although factor IX deficiency is clinically indistinguishable from Haemophilia A, correct diagnosis of deficient factor is very important as further therapy and management of the patient in factor IX and factor VIII deficiency is different