Rare Congenital Bleeding Disorders from a Tertiary Haematology Referral Center in Western India

Introduction: Bleeding disorders are present in varying frequency in a given population. We present our data of rare bleeding disorders (excluding Haemophilia & von Willebrand’d disease) since little data about the same is available from developing countries. Many of the rare bleeding disorders are associated with a strong history of consanguinity, the frequency of consanguineous marriages are between 12 –42 %. Materials and Methods: These cases were part of the referral for evaluation of congenital bleeding disorders; some of the cases were diagnosed as part of pre-operative coagulation screen. All the cases were subject to a detailed history encompassing the timing site and frequency of bleed, history of consanguinity, umbilical cord bleed. Lab. evaluation included bleeding time (Ivy’s method), clotting time., in vivo adhesion and clot retraction. Prothrombin and activated partial thromboplastin time with correction studies as and when required, Factor XIII screen with urea solubility test. Complete blood count was done prior to bleeding time and platelet adequacy was confirmed. All blood samples used for coagulation assays were collected in sterile citrate vaccutainers. Further investigations were performed including factor assays depending upon the results of the basic profile. Results: Feb 2000 till August 2008. Total No. of cases studies I from Year 2000 970 Abnormal cases 75 Consanguinity 25 Disorder No. Of Cases Factor V Deficiency 5 Factor VII Deficiency 4 Factor X Deficiency 4 Factor XI Deficiency 1 Factor XII Deficiency 6 Factor XIII Deficiency 8 Combined factor deficiency 4 Factor I deficiency 11 Dysfibrinogenemia 6 Factor II deficiency 1 Glanzmann’s thrombasthenemia 25 Bernard soullier’s syndrome 2 Conclusion: In our institution which caters to a large population in and around city of Pune, Maharashtra Western India, we have detected a good number of patients with rare bleeding disorders. These disorders can be found on a more frequent basis as we have a significant incidence of consanguineous marriages, as our data shows i.e approx. 33%. This report highlights need for extended family search and molecular characterization so as to make antenatal diagnosis amenable for severe bleeding disorders.