Clinicopathological profile of Patients Diagnosed with Congenital Disorder of Haemostasis

Except for menstrual bleeding, spontaneous bleeding is abnormal. The presence of normal blood vessels, platelets and coagulation factors ensure that bleeding occurs only after inciting stimuli such as trauma, ulcers, surgery etc. Common causes of acquired disorders of haemostasis are liver disease, drugs, thrombocytopenia etc. When patients develop spontaneous bleeding with no obvious identifiable cause or abnormal bleeding following a challenge, they are referred to the clinical pathology laboratory for a workup for haemostatic disease. Investigation of a bleeding patient begins with meticulous history taking, identifying the type of bleeding and a thorough clinical examination. This is followed by a sequential array of laboratory tests starting from first-line screening tests followed by specialized tests such as mixing tests, factor assays and platelet function tests. This was an observational study of data of patients who underwent investigations for abnormal bleeding between the periods January 2016 to May 2019. Of the 55 patients who underwent this examination process, 20 were diagnosed to have Congenital Disorder of Haemostasis. The ratio of males to females was 3: 1 and the age range was from 6 months to 41 years. 50% of them had Hemophilia. The ratio of Hemophilia A: B was 4:1. Rare inherited bleeding disorders included deficiencies of factor VII & X. Three patients had combined factor deficiencies. Of the 6 von Willebrand disease patients, 4 were of Type III. 60% had mucocutaneous bleeding while 40 % had major bleeding. There was no correlation between severity of factor VIII deficiency and clinical bleeding