Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype

Centre Hospitalier Universitaire Dijon12 enrolled

Overview

It appears that the mutation p.Ile112Thr in the factor IX gene confers a discrepancy between mild factor IX level and severe bleeding phenotype. Databases and litterature analysis are poor on this matter. The goal of this study is to compile bleeding phenotype in patients with this specific mutation to prove the clinico-biological discordance in order to improve patient care and follow-up.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Hemophilia B

Interventions

data collectionOTHER

data collection on the history of the disease, hemophilia

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * hemophilia B with p.Ile112Thr mutation on factor IX gene Exclusion Criteria: None

Locations (1)

CHU Dijon Bourgogne

Dijon, France

Outcomes

Primary Outcomes

Bleeding phenotype

bleeding phenotype in patients with p.Ile112Thr in factor IX gene

Time frame: Through study completion, an average of 4 months

Central Contacts

Julien BOVET

CONTACT

3.80.29.33.14 julien.bovet@chu-dijon.fr

Data from ClinicalTrials.gov

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