Publication:

A clinico haematological study of inherited bleeding disorders in children

Background The pattern of congenital bleeding disorders cases attending a tertiary level hospital is examined in this study by establishing their etiological diagnosis and providing appropriate management options for the disorders. This study aims to detect congenital bleeding disorder clinically among children between 3 months to 15 years of age, and to confirm and classify the types of bleeding disorders. This study gains importance in the scenario of recent advances in carrier detection and gene therapy for genetically inherited bleeding disorders.

Methods This study comprised of 32 patients with bleeding manifestations attending pediatric outpatient department. They were examined for the clinical presentation and underwent hematological investigations to arrive at a diagnosis. The data thus obtained was tabulated and analyzed to study the demographic distribution and clinical presentation of the congenital bleeding disorders.

Results In this study, amongst the hereditary bleeding disorders hemophilia was found to be the commonest congenital hemostatic defect. Factor VIII deficiency was the commonest (18 out of 32) bleeding disorder, followed by factor IX (3 out of 32). Six cases of platelet disorders were diagnosed of which 4 patients were diagnosed to have thrombasthenia. The commonest clinical manifestation was subcutaneous hematoma. 22 children complained of bleeding gums followed by spontaneous hemarthrosis (17 episodes). Long term complications of bleeding disorders like growth retardation, anemia, joint deformity and hemiplegia were also observed in the study.

Conclusions Spreading awareness regarding bleeding disorders along with prompt diagnosis, appropriate treatment and follow up and genetic counseling is essential to prevent morbidity due to congenital bleeding disorders.