Factor V Q 506 mutation in children with thrombosis

Area of Science:

• Genetics
• Pediatrics
• Hematology

Background:

• Factor V Leiden is a common inherited risk factor for venous thromboembolism.
• Thrombosis in children is a serious condition with significant morbidity and mortality.
• The role of factor V Leiden in pediatric thrombosis requires further elucidation.

Purpose of the Study:

• To investigate the prevalence of the factor V Leiden mutation in children with thrombosis.
• To explore the association between factor V Leiden mutation and central nervous system thromboses in pediatric patients.
• To examine the potential link between factor V Leiden mutation and protein S deficiency in this cohort.

Main Methods:

• Genotyping was performed to detect the factor V Leiden mutation.
• A case-control study design was employed, comparing children with thrombosis to healthy controls.
• Coagulation factors, including protein S, were assessed in the study population.

Main Results:

• The factor V Leiden mutation was identified in 6 out of 12 children with thrombosis (5 heterozygous, 1 homozygous).
• One heterozygous individual was found among the 20 control subjects.
• Central nervous system thromboses were more frequent in children with the factor V Leiden mutation, particularly those with co-existing protein S deficiency.

Conclusions:

• The factor V Leiden mutation is present in a significant proportion of children experiencing thrombosis.
• Factor V Leiden mutation may be an important risk factor for central nervous system thromboses in children.
• The co-occurrence of factor V Leiden mutation and protein S deficiency may potentiate thrombotic risk in pediatric patients.