Inherited bleeding disorders are not uncommon in pediatric practice: most of them being chronic, require lifelong replacement therapy. To frame a management policy, it is essential to assess the load and pattern of bleeding disorders in the local population. However, there is paucity of data reporting the clinical spectrum of coagulation and platelet function disorders in Indian children. Hence to find out the exact burden and clinico-investigational profile of these patients we conducted this study. In this retrospective case review, detailed clinical information was extracted from case records in 426 children with a suspected diagnosis of hereditary bleeding disorder registered in the Pediatric Hematology clinic of a tertiary referral centre over a period of 14 years (1998–2011) and pooled for analysis. In our cohort prevalence of hemophilia A, hemophilia B, platelet function disorders, von Willebrand disease and other rare factor deficiencies were 72%, 11%, 7%, 4% and 4% respectively. Common clinical spectrum included skin bleeds, arthropathy, mucosal bleeds. 10% had deeper tissue bleeding and 16% received replacement therapy at the first visit. Nearly 3/4th of cases were lost for follow up after the initial visit. Hemophilia A was the commonest inherited bleeding disorder in our population. Skin bleeds and arthropathy were common clinical presentations. Factor replacement therapy was restricted to a minority. There is an urgent need for establishing centres of excellence with administrative commitment for factor replacement therapy for comprehensive management of such children in resource-limited countries.
Bernard soulier syndrome Glanzmanns’ thrombasthenia Hemophilia Inherited coagulation disorders von Willebrand disease Inherited bleeding disorder Children Platelet function defect
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TS: Developed study protocol, implemented the study and wrote the first draft of the paper. SN, JA, RKM, AT, DB: Contributed in writing manuscript and providing critical feedback. DB: Guarantor of the final manuscript.
The authors have no financial relationships relevant to this article to disclose.
Compliance with Ethical Standards
Conflict of interest
The authors declare that they have no conflict of interests.
Institutional ethics committee permission was obtained for this study.
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