Inherited Bleeding Disorders in North Indian Children: 14 years’ Experience from a Tertiary Care Center


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.

This is a preview of subscription content, access via your institution.

Fig. 1


  1. 1.

    Awidi AS (1984) Congenital hemorrhagic disorders in Jordan. Thromb Haemost 51(3):331–333

    CAS  PubMed  Article  Google Scholar 

  2. 2.

    Karimi M, Yarmohammadi H, Ardeshiri R, Yarmohammadi H (2002) Inherited coagulation disorders in southern Iran. Haemoph Off J World Fed Hemoph 8(6):740–744

    CAS  Article  Google Scholar 

  3. 3.

    El-Bostany EA, Omer N, Salama EE, El-Ghoroury EA, Al-Jaouni SK (2008) The spectrum of inherited bleeding disorders in pediatrics. Blood Coagul Fibrinolysis Int J Haemost Thromb 19(8):771–775

    Article  Google Scholar 

  4. 4.

    Mansouritorghabeh H, Manavifar L, Banihashem A, Modaresi A, Shirdel A, Shahroudian M et al (2013) An investigation of the spectrum of common and rare inherited coagulation disorders in north-eastern Iran. Blood Transfus Trasfus Sangue 11(2):233–240

    Google Scholar 

  5. 5.

    Sajid R, Khalid S, Mazari N, Azhar WB, Khurshid M (2010) Clinical audit of inherited bleeding disorders in a developing country. Indian J Pathol Microbiol 53(1):50–53

    PubMed  Article  Google Scholar 

  6. 6.

    Gupta PK, Charan VD, Saxena R (2007) Spectrum of von Willebrand disease and inherited platelet function disorders amongst Indian bleeders. Ann Hematol 86(6):403–407

    CAS  PubMed  Article  Google Scholar 

  7. 7.

    Trasi S, Shetty S, Ghosh K, Mohanty D (2005) Prevalence and spectrum of von Willebrand disease from western India. Indian J Med Res 121(5):653–658

    PubMed  Google Scholar 

  8. 8.

    Ahmad F, Kannan M, Ranjan R, Bajaj J, Choudhary VP, Saxena R (2008) Inherited platelet function disorders versus other inherited bleeding disorders: an Indian overview. Thromb Res 121(6):835–841

    CAS  PubMed  Article  Google Scholar 

  9. 9.

    Shetty S, Shelar T, Mirgal D, Nawadkar V, Pinto P, Shabhag S et al (2014) Rare coagulation factor deficiencies: a countrywide screening data from India. Haemoph Off J World Fed Hemoph 20(4):575–581

    CAS  Article  Google Scholar 

  10. 10.

    Lewis S, Bain B, Baitd I (2006) Dacie and Lewis practical haematology, 10th edn. Churchill Livingstone, Philadelphia, pp 380–440

    Google Scholar 

  11. 11.

    Bachmann F (1980) Diagnostic approach to mild bleeding disorders. Semin Hematol 17(4):292–305

    CAS  PubMed  Google Scholar 

  12. 12.

    Saraya AK, Saxena R, Dhot PS, Choudhry VP, Pati H (1994) Platelet function disorders in north India. Natl Med J India 7(1):5–7

    CAS  PubMed  Google Scholar 

  13. 13.

    Quiroga T, Goycoolea M, Panes O, Aranda E, Martínez C, Belmont S et al (2007) High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls. Haematologica 92(3):357–365

    PubMed  Article  Google Scholar 

  14. 14.

    Gupta M, Bhattacharyya M, Choudhry VP, Saxena R (2005) Spectrum of inherited bleeding disorders in Indians. Clin Appl Thromb Off J Int Acad Clin Appl Thromb 11(3):325–330

    Article  Google Scholar 

  15. 15.

    Werner EJ, Broxson EH, Tucker EL, Giroux DS, Shults J, Abshire TC (1993) Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr 123(6):893–898

    CAS  PubMed  Article  Google Scholar 

  16. 16.

    Windsor S, Lyng A, Taylor SA, Ewenstein BM, Neufeld EJ, Lillicrap D (1995) Severe haemophilia A in a female resulting from two de novo factor VIII mutations. Br J Haematol 90(4):906–909

    CAS  PubMed  Article  Google Scholar 

  17. 17.

    Seeler RA, Vnencak-Jones CL, Bassett LM, Gilbert JB, Michaelis RC (1999) Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation. Haemoph Off J World Fed Hemoph 5(6):445–449

    CAS  Article  Google Scholar 

  18. 18.

    Hoyer LW (1994) Hemophilia A. N Engl J Med 330(1):38–47

    CAS  PubMed  Article  Google Scholar 

  19. 19.

    Capra R, Mattioli F, Kalman B, Marcianò N, Berenzi A, Benetti A (1993) Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII. J Neurol 240(6):336–338

    CAS  PubMed  Article  Google Scholar 

  20. 20.

    Zhang L, Li H, Zhao H, Zhang X, Ji L, Yang R (2003) Retrospective analysis of 1312 patients with haemophilia and related disorders in a single Chinese institute. Haemoph Off J World Fed Hemoph 9(6):696–702

    CAS  Article  Google Scholar 

  21. 21.

    Garewal G, Ahluwalia J (2003) Platelet function disorders. Indian J Pediatr 70(12):983–987

    PubMed  Article  Google Scholar 

  22. 22.

    Manisha M, Ghosh K, Shetty S, Nair S, Khare A, Kulkarni B et al (2002) Spectrum of inherited bleeding disorders from Western India. Haematologia (Budapest) 32(1):39–47

    CAS  Article  Google Scholar 

  23. 23.

    Bittles AH (2002) Endogamy, consanguinity and community genetics. J Genet 81(3):91–98

    CAS  PubMed  Article  Google Scholar 

  24. 24.

    Lee CA (1996) Transfusion-transmitted disease. Baillières Clin Haematol 9(2):369–394

    CAS  PubMed  Article  Google Scholar 

  25. 25.

    Chuansumrit A, Krasaesub S, Angchaisuksiri P, Hathirat P, Isarangkura P (2004) Survival analysis of patients with haemophilia at the International Haemophilia Training Centre, Bangkok, Thailand. Haemoph Off J World Fed Hemoph 10(5):542–549

    CAS  Article  Google Scholar 

  26. 26.

    Borhany M, Shamsi T, Naz A, Khan A, Parveen K, Ansari S et al (2011) Congenital bleeding disorders in Karachi, Pakistan. Clin Appl Thromb Off J Int Acad Clin Appl Thromb 17(6):E131–E137

    Article  Google Scholar 

  27. 27.

    Meena M, Jindal T, Hazarika A (2011) Prevalence of hepatitis B virus and hepatitis C virus among blood donors at a tertiary care hospital in India: a 5-year study. Transfusion (Paris) 51(1):198–202

    Article  Google Scholar 

  28. 28.

    Datta S (2008) An overview of molecular epidemiology of hepatitis B virus (HBV) in India. Virol J 5:156

    PubMed  PubMed Central  Article  Google Scholar 

  29. 29.

    Panda M, Kar K (2008) HIV, hepatitis B and C infection status of the blood donors in a blood bank of a tertiary health care centre of Orissa. Indian J Public Health 52(1):43–44

    CAS  PubMed  Google Scholar 

  30. 30.

    Wight J, Paisley S (2003) The epidemiology of inhibitors in haemophilia A: a systematic review. Haemoph Off J World Fed Hemoph 9(4):418–435

    CAS  Article  Google Scholar 

  31. 31.

    Pinto P, Shelar T, Nawadkar V, Mirgal D, Mukaddam A, Nair P et al (2014) The epidemiology of FVIII inhibitors in Indian haemophilia A patients. Indian J Hematol Blood Transfus Off J Indian Soc Hematol Blood Transfus 30(4):356–363

    Article  Google Scholar 

  32. 32.

    Dubey A, Verma A, Elhence P, Agarwal P (2013) Evaluation of transfusion-related complications along with estimation of inhibitors in patients with hemophilia: a pilot study from a single center. Asian J Transfus Sci 7(1):8–10

    PubMed  PubMed Central  Article  Google Scholar 

Download references


The authors have no financial relationships relevant to this article to disclose.

Author information




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.

Corresponding author

Correspondence to Deepak Bansal.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interests.

Ethics approval

Institutional ethics committee permission was obtained for this study.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Sahoo, T., Naseem, S., Ahluwalia, J. et al. Inherited Bleeding Disorders in North Indian Children: 14 years’ Experience from a Tertiary Care Center. Indian J Hematol Blood Transfus 36, 330–336 (2020).

Download citation


  • Bernard soulier syndrome
  • Glanzmanns’ thrombasthenia
  • Hemophilia
  • Inherited coagulation disorders
  • von Willebrand disease
  • Inherited bleeding disorder
  • Children
  • Platelet function defect