Frequency and clinical spectrum of rare inherited coagulopathies--a tricenter study.

Objective: To determine the frequency of rare inherited coagulopathies at three centers of haematology in Karachi and to study the clinical spectrum and laboratory data of these coagulopathies.

Methods: This was a descriptive study conducted from September 2003 to December 2004 on subjects from Aga Khan University Hospital, Husaini Blood Bank and Fatimid Blood Transfusion Centre. All the subjects with bleeding tendency without any acquired causes of bleeding were selected for further investigation, and were asked relevant questions as present in the questionnaire. Screening tests including platelet count, PT, APTT and bleeding time were performed on all patients and subsequently, specific tests including factor assay, clot solubility test, platelet aggregation and vWFAg were performed.

Results: In total, 1100 patients were evaluated for bleeding tendency at the three centers and 65 patients were diagnosed to have inherited coagulopathy other than haemophilia A and B. Out of these 65 patients, 33 (50.7%) were males and 32 (49.2%) were females. Rare inherited coagulopathies that were found in our population included deficiency of factor VII {n = 21 (32.3%)}, factor X {n = 17 (26.1%)}, factor XIII {n =14 (21.5%)}, factor V {n = 9 (13.8%)}, fibrinogen {n = 2 (3%)}, prothrombin {n = 1 (1.5%)} and factor XII {n = 1 (1.5%)}.

Conclusion: Inherited coagulopathies other than haemophilia A and B were noted in the study population.