Study of (increased) expression of red blood cell pyruvate kinase antigen and ineffective erythropoiesis in patients with red blood cell pyruvate kinase deficiency.
Completed
- Conditions
- 10005330red blood cell diseaseanemia
- Registration Number
- NL-OMON35096
- Lead Sponsor
- niversitair Medisch Centrum Utrecht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 50
Inclusion Criteria
genetically confirmed diagnosis of pyruvate kinase deficiency
Exclusion Criteria
Patients may not have received blood transfusions within 3 months prior to blood collection.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Main study parameter: PK antigen levels in patients with PK-deficiency.<br /><br>Red blood cell concentrates will be generated from 6 ml peripheral blood<br /><br>samples (EDTA) from PK-deficient patients and controls according to<br /><br>well-established methods. Subsequently, PK antigen levels will be determined by<br /><br>an ELISA method that has been recently developed in our laboratory (Van Wijk et<br /><br>al, 2009). Levels will be compared with normal control samples and correlated<br /><br>to the clinical phenotype and the genotype of patients.<br /><br><br /><br>Van Wijk, R., Huizinga, E.G., Van Wesel, A.C.W., Van Oirschot, B.A., Hadders,<br /><br>M.A. & van Solinge, W.W. (2009) Fifteen novel mutations in PKLR associated with<br /><br>pyruvate kinase (PK) deficiency: structural implications of amino acid<br /><br>substitutions in PK. Hum Mutat, 30, 446-453.</p><br>
- Secondary Outcome Measures
Name Time Method