Affiliations 

  • 1 Universiti Putra Malaysia
MyJurnal

Abstract

Congenital Coagulation Disorders (CCD) are inherited and present from birth. Their diagnosis depends on clinical awareness and correct laboratory investigations. The central registry for CCD or Congenital Bleeding Disorders (CBD) is at the Blood Services Centre, Kuala Lumpur Hospital and was established in 1975. There are 871 CCD registered. The commonest CCD are 631 (72%) Haemophilia A, 102 (12%) Haemophilia B and 93 (10.7%) von Willebrand's Disease. The other deficiencies registered are rare, only 45 in total:— Factor 1 (4), FV (4), FVII (21), FX (4), FXII (6), and FXIII (6). Diagnosis is based on clinical suspicion, screening tests namely the Prothrombin Time (PT) and activated Partial Thromboplastin Time (aPTT) and confirmation of the diagnosis was by doing specific factor assays. Molecular studies were done on FVIII and FXIII. Treatment is by transfusing the deficient factor when there is bleeding and comprehensive care involving the specialities like the neurologist/ neurosurgeon /orthopaedic / physiotherapy/ dental besides the haematologist and paediatrician to manage the complicatioons seen. There are fewer problems now as patients are diagnosed earlier and managed better. There is now a good prognosis and a better quality of life.