Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype (Hémophilie B)

University Hospital Center (CHU) Dijon Bourgogne

Status: Unknown

Conditions: Hemophilia B

Treatments: Other: data collection

Study type: Observational

Funder types: Other

Identifiers

NCT03946384

BOVET 2019

Details and patient eligibility

About

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.

Enrollment: 12 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

• hemophilia B with p.Ile112Thr mutation on factor IX gene

Exclusion Criteria: None

Trial design

12 participants in 1 patient group

patients

Description:

Hemophilia B with p.Ile112Thr mutation on factor IX gene

Treatment:

Other: data collection