A Clinico-Hematological Study of Congenital Bleeding Disorders

Congenital bleeding disorders are abnormalities of hemostasis that may present with significant difficulties in diagnosis and management.

This study was done to know various clinical presentations of congenital bleeding disorders and also to note the hematological changes associated with them.

This was a hospital based study conducted at haematology unit, Department of Pathology, JJM Medical College, Davangere. The present study includes 110 cases referred to our department with history of bleeding disease were evaluated clinically and investigated appropriately to detect the underlying cause for the abnormal hemostatic function.

This clinico-hematological study of congenital bleeding disorders showed Glanzmann's thrombasthenia in 4 cases (3.64%). The remaining 106 cases are had diseases affecting clotting factor which included Hemophilia A-70 cases; Hemophilia B-19 cases; Factor VII deficiency-1 case; afibrinogenemia-1 case; Factor XIII deficiency-3 cases; vWD-11 cases and dysfibrinogenemia-1 case. Vascular disorders were not encountered. Majority of these cases presented with hemarthrosis and muscle hematoma. Plasma clotting tests (APTT) were prolonged in majority of cases, corrected with aged serum, adsorbed plasma, F VIII deficient plasma, F IX deficient plasma. Factor assay showed mild, moderate and severe forms.

In spite of various advanced diagnostic investigations, the basic hematological investigation remains first panel or step towards the approach to the diagnosis of congenital bleeding disorders.