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  11. Bleeding Disorders In Children With Genetic Diseases: A Narrative Review

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Raphaelle Cagol1, Mariam Sbeity Barakat1, Marjolaine Willems2

  • 1Department of Pediatric Oncology and Hematology, University of Montpellier, CHU de Montpellier, Montpellier, France.

Acta Paediatrica (Oslo, Norway : 1992)
|January 20, 2026

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View abstract on PubMed

Summary
This summary is machine-generated.

Children with genetic diseases often have bleeding issues due to haemostatic dysfunction. This review highlights genetic syndromes linked to bleeding, emphasizing platelet dysfunction and recommending coagulation screening for better management.

Area of Science:

  • Pediatric Hematology
  • Clinical Genetics
  • Hemostasis and Thrombosis

Background:

  • Children with genetic diseases face heightened risks of bleeding complications.
  • Identifying haemostatic disorders is vital for preventing and managing haemorrhagic events.
  • Genetic syndromes can significantly predispose children to bleeding diathesis.

Purpose of the Study:

  • To offer a comprehensive review of genetic syndromes causing bleeding in children due to haemostatic dysfunction.
  • To consolidate information on the clinical and laboratory findings of these syndromes.
  • To elucidate the mechanisms of haemostasis impairment in affected pediatric populations.

Main Methods:

  • Utilized the Human Phenotype Ontology to identify relevant genetic syndromes.
  • Conducted a thorough literature review to gather data on clinical and laboratory findings.
Keywords:
bleedingcoagulationcoagulation factor deficiencygenetic

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  • Summarized haemostatic abnormalities associated with each identified genetic syndrome.

    • Main Results:

    • Eighteen genetic diseases associated with bleeding diathesis were identified.
    • Platelet dysfunction was the most frequent cause of bleeding in 17 diseases.
    • Coagulation factor deficiencies were noted in four diseases, with six posing a severe bleeding risk.

    Conclusions:

    • Early recognition of haemostatic abnormalities in pediatric genetic diseases improves clinical management.
    • Systematic coagulation screening is advised for children diagnosed with these specific genetic syndromes.
    • Understanding these links aids in targeted preventive strategies and risk mitigation.
    genetic diseases
    haemostasis
    platelet defect
    platelet deficiency