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Published on: September 9, 2012
Heritable thrombophilia and childhood thrombosis
1Department of Haematology, Royal Hospital for Sick Children, Yorkhill NHS Trust, Glasgow, UK. elizabeth.chalmers@yorkhill.scot.nhs.uk
Insights
Childhood thrombosis, though rare, is increasingly recognized. Inherited prothrombotic defects may contribute, but their role and the need for screening in pediatric patients require further investigation.
Area of Science:
- Pediatric Thrombosis
- Hematology
- Genetics
Background:
- Thrombotic events in children are distinct from adults and require understanding of underlying causes.
- Inherited prothrombotic defects are known risk factors in adults and may play a role in pediatric cases.
- Homozygous deficiencies of natural coagulation inhibitors are linked to severe prothrombotic disorders, often presenting perinatally.
Purpose of the Study:
- To explore the role of inherited prothrombotic defects in childhood thrombosis.
- To investigate the prevalence and risks associated with heritable thrombophilia in pediatric populations.
- To determine the utility of thrombophilia screening in pediatric practice.
Main Methods:
- Review of existing literature on inherited thrombophilia and pediatric thrombosis.
- Analysis of etiological factors in childhood thromboembolic events.
- Comparison of risk factors in pediatric versus adult thrombosis.
Main Results:
- The association between most inherited prothrombotic disorders and childhood thrombosis is not well-defined.
- Prevalence of heritable thrombophilia varies, and risks for specific defects are understudied in children.
- Acquired risk factors are common in pediatric thrombosis and differ from adult cases.
Conclusions:
- Further research is needed to clarify the risks of heritable thrombophilia in infants and children.
- The role and efficacy of thrombophilia screening in pediatric practice require further evaluation.
Abstract:
Thrombotic problems are rare during childhood but are increasingly recognized, particularly in tertiary care paediatric populations, and represent a different spectrum of disorders to those seen in adults. An understanding of the aetiological factors involved in the pathogenesis of these events is important both for prevention and management. A number of inherited prothrombotic defects have been shown to be independent risk factors for thromboembolism in adult studies, and may also contribute to thrombotic events in childhood. Homozygous deficiencies of naturally occurring inhibitors of coagulation are clearly associated with major prothrombotic disorders, often presenting in the perinatal period. The association of other inherited prothrombotic disorders with thrombosis in childhood is less well defined. The prevalence of heritable thrombophilia varies in different clinical settings and the risks associated with individual defects has only been addressed in a small number of studies to date. Additional acquired risk factors are also present in a high percentage of cases and again differ from those seen in adult thrombosis. Further studies are required to assess the risks associated with heritable thrombophilia during infancy and childhood, and to define the place of thrombophilia screening in paediatric practice.
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