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This is a Cross-Sectional Study study.

October 3, 2025Clinical ChemistryOpen Access

A-165 JAK2V617F Mutation Prevalence in Thrombophilia Profiles: A Regional Laboratory Experience

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Analysis reveals low prevalence of JAK2 mutation in patients with unexplained thrombophilia, suggesting limited screening benefits.

Only 0.7% of tested patients had a positive JAK2 mutation, highlighting its rarity in unexplained thrombophilia.
In a sample of 135 patients, the mean age was 46 years, with a majority (76.3%) being female.
A cross-sectional analysis showed no correlation between JAK2 status and the presence of cytosis (p=1).
Findings suggest that including JAK2 in first-line genetic screening for thrombophilia may not be warranted.

Stenberg et al. (2025) studied this question.

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