Abstract

Introduction:  Haemophilia is an X-linked congenital bleeding disorder caused by coagulation factor deficiency that may present with bleeding episodes which may range from minor to severe life threatening. Factor replacement is ideal treatment but very costly and affordable only with proper government or any society funding.

Aims and Objectives: We studied all the patients with factor deficiency who came to Assam Medical College and Hospital, Dibrugarh for one year from 1/7/14 to 31/6/15 with respect to their clinical presentation, severity, treatment and outcome. As factors are now available in government medical college free of cost to haemophilia patients, we were also trying to identify a subgroup of patients who could benefit from prophylactic factor.

Materials and Methods: A detailed clinical and family history was taken; proper general examination was done. Adequate laboratory investigations were done. Untested siblings were counselled and tested for factor deficiency. Factors were given to indicated patients with mild involvement as out-patients department (OPD) basis, but more severe cases were hospitalized. Proper clinical examination, routine blood tests and physiotherapy were advised in hospitalized patients.

Results and Observations: Forty five (45) cases were studied during this one year period of which, 43 were males and 2 were females. Thirty three (33) patients were known haemophilic and nine (9) cases were newly diagnosed during our study period. Most of the patients were below 20 years of age. 36 (81%) patients were Factor VIII deficient which was most common. Out of these 36 patients, 17 had severe, 8 had moderate and 11 had mild factor VIII deficiency. Factor IX deficiency was seen in eight (8) patients which accounted for 17% of cases. Five (5) cases had severe and three (3) cases had mild factor IX deficiency. One (1) case was Factor X deficient. There were 18 incidences of hospitalizations in our hospital of which 14 had factor VIII deficiency, 3 had factor IX deficiency and one had factor X deficiency.  87 Out Patient visits were recorded for haemophilia patients who were managed with factor replacement and/or other treatments as OPD basis. Hospitalizations were more in severe cases (58%) than in others (27%).35 cases presented with joint bleed, 11 cases with intramuscular bleed, one (1) case with life threatening intra-abdominal bleed, nine (9)cases with bleeds from teeth and gums and three (3)cases presented with epistaxis. Of the nine (9) newly diagnosed cases, three (3) presented with bleeding following dental procedures, one(1) with bleeding following surgery, two (2) with joint pain and deformity and three (3) were diagnosed after screening of siblings. All cases of major bleed received Factor and/or FFP replacement. One patient of severe factor XIII deficiency died after an intracranial bleeding. 22 patients with factor VIII and factor IX level below <1% were regarded as severe factor deficient cases and were found to have 14 hospitalizations, multiple OPD visits and one (1) mortality. On the other hand 23 patients with their factor level in mild (5 to 40%) and moderate (1 to 5%) range had only 4 hospitalizations, infrequent OPD consultations and no mortality. Two females were found to have mild factor VIII deficiency.

Conclusion: We have presented the demographics of factor deficient patients coming to the eastern most Tertiary Care center of India over a period of one year. As per the estimated number of expected cases, we feel that Haemophilia is grossly under diagnosed in this region. Factor VIII was most common and most of the patients were below the age of 20 years. The patients with severe factor deficiency (Factor count <1%) were more frequently hospitalized and had most of the complications. A prophylactic Factor replacement in severe factor deficiency cases and females would reduce the mortality and morbidity in these groups of patients to a great extent.

Keywords: Haemophilia A, Haemophilia B, Factor VIII, Factor IX, Factor Deficiency