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
Completed
- Conditions
- bleeding disorderhaemophilia1008362410023213
- Registration Number
- NL-OMON41231
- Lead Sponsor
- Academisch Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 284
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
None
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The main parameters that are measured are the presence of an HFE gene mutation,<br /><br>the length of the (GT)n-repeat in the promoter region of the HMOX1 gene and the<br /><br>genotype of Hp. These parameters will be related to progression in radiographic<br /><br>joint damage, measured as amount of increase in Pettersson score/year; the<br /><br>latter from consisting retrospective databases from the patients involved.</p><br>
- Secondary Outcome Measures
Name Time Method <p>The number of joint bleeds per year as recorded by patients in general<br /><br>practice, the age at first joint bleed and the severity of the haemophilia have<br /><br>an effect on joint damage progression and might confound the relation of the<br /><br>differences in genetic coding for iron and haem handling and joint damage.</p><br>