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A COMPREHENSIVE STUDY ON AUTOSOMAL RECESSIVE INHERITED BLEEDING DISORDERS IN PAKISTAN

Dr. Ayesha Kanwal, Dr. Rijab Nasir, Dr. Iqra Qayyum

Introduction: Disorders of hemostasis leading to bleeding are quite common. They can be divided into hereditary and acquired with the acquired defects being more common. All can further be compartmentalized into defects of the vasculature, defects of platelets or defects of the coagulation proteins. Aims and objective: The main objective of the study is to find the autosomal recessive inherited bleeding disorders in Pakistan. Material and methods: This cross sectional study was conducted at Shifa International Hospital, Islamabad during 2018. In local set-up, patients are usually diagnosed to have a bleeding disorder at primary and secondary health care centers or general clinics. The confirmatory investigations usually include only the platelets count, bleeding time (BT), Prothrombin time (PT) and activated partial thromboplastin time (APTT). Such cases are hence labelled as merely the bleeding disorder patients. Results: Average age was 6.13±2.33 years, males were 304 (70%) and females were 131 (30%). Out of these 435 patients 273 (62.8%) had coagulation factor deficiency. There were 2 females among the 153 patients with X linked inheritance (Factors VIII and IX). Of the remaining 120 patients with autosomal inheritance there were 67 males and 53 females. Eighty one (18.6%) had platelet function defects. There were 45 males and 36 females among the patients. Another 81 (18.6%) had vWF deficiency. Conclusion: It is concluded that Coagulation factor deficiencies with factor VIII deficiency being the commonest are the most frequent bleeding disorders. Platelet function defects and vWF deficiency also comprise significant proportion of the bleeding disorders

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