Clinical Profile of Hemophilia in Children in a Tertiary Care Hospital in North India

ABSTRACT

Hemophilia is congenital X-linked disorder of the coagulation system whereby deficiency of factor VIII(hemophilia A) or factor IX (hemophilia B) predisposes the affected male to a lifelong risk of bleeds. Early andadequate support with factor replacement will prevent death from fatal bleeds. However, awareness levelsamong students and general practitioners continued to be very low resulting in delayed and inappropriatemanagement. The present study designed to focus on the presentation, genetic aspects and management ofhemophiliac children. Clinical profile of 119 diagnosed cases of hemophilia up to 18 years of age was analyzed.Out of a total 119 cases enrolled mean age of the patients was 9.5 years with an age range of 6 months to 18years. 97(81%) cases were hemophilia A and 22 (18.4%) cases were hemophilia B. Only 48(40.0%) caseshad family history of bleeding with 71 (60%) had no history of bleeding in family. Among the hemophilia A50.4% (52.5%) cases had mild, 45.2 (47.5%) cases had moderate disease and among the hemophilia B, 9.5(40%) cases had mild, 11.5 (50%) cases had moderate and 2.3 (10%) cases had severe disease. Hemarthrosisof knee joint was the major presentation followed by ankle, elbow, shoulder followed by circumcision andtooth extraction bleeding. 62% of the hemophiliacs in our study had initial bleeding episode before 1 year ofage and by 6 years of age 94% of cases had developed symptoms of bleeding evidence. No patient had historyof bleeding during neonatal period. It is concluded that hemarthrosis found to be the leading cause of presentation;bruises and hematomas either spontaneous or traumatic were the chief complaints at the presentation of thesechildren.