Differences in the genetic coding for HFE, HMOX1 and haptoglobin, important in handling of iron and haem, in relation to the severity of haemophilic arthropathy

Differences in the genetic coding for HFE, HMOX1 and haptoglobin, important in handling of iron and haem, in relation to the severity of haemophilic arthropathy - Iron / haem handling and haemophilic arthropathy

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON41231

Enrollment

284

Registered

2013-04-09

Start date

2013-06-21

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

bleeding disorder haemophilia

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Patients with severe and moderate haemophilia (factor VIII/IX activity *5%) of 18 years or older who visit the Van Creveldkliniek regularly and are treated according to the Van Creveld protocol.

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

Measure	Time frame
The main parameters that are measured are the presence of an HFE gene mutation, the length of the (GT)n-repeat in the promoter region of the HMOX1 gene and the genotype of Hp. These parameters will be related to progression in radiographic joint damage, measured as amount of increase in Pettersson score/year; the latter from consisting retrospective databases from the patients involved.	—

Secondary

Measure	Time frame
The number of joint bleeds per year as recorded by patients in general practice, the age at first joint bleed and the severity of the haemophilia have an effect on joint damage progression and might confound the relation of the differences in genetic coding for iron and haem handling and joint damage.	—

Countries

Netherlands

Outcome results