Clinical Manifestations and Complications of Haemophilia A in Pakistan

Background: Haemophilia A is X linked recessive disorder. Its severity is defined by FVIII level in plasma. Haemophilia A is characterized by repeated and prolonged bleeding episodes. Haemorrhages into joints and muscles, lead to painful and progressive arthropathy and muscle atrophy which results in severe handicaps. This study was planned to assess the magnitude of above mentioned problems in patients registered with Haemophilia welfare association Lahore, Pakistan. Materials and Methods: Patients reporting to Pakistan Hemophilia Welfare association Lahore were included in this study. Out of 349 patients 229 were diagnosed as HaemophiliaA. History, physical examination and laboratory investigations of each Haemophilia patient were carried out. Result: Sixty five percent of the patients were diagnosed at less than 5 year of age. Arthropathy was the most frequently (76.4%) occurring complication. Out of 229 patients based on determination of factor levels 154(67.2%) were found to severe Haemophilia A. Significant association was observed between factor levels and age of diagnosis, 68 (73.1%) patients with severe Haemophilia were diagnosed under the age of one year (p =0.013). Similarly, 126 (72%) with arthropathy belonged to the group of patients with severe deficiency of Factor VIII (p =0.004). Conclusion: Complications like arthropathy and life threatening bleeding can be prevented by establishing early diagnosis and administration of deficient factor. Haemophilia care should start during the antenatal period by identifying the risk of obligate carriers. Effective carrier detection should be offered to females from the affected families.