Congenital hemolytic anemia: causes, symptoms and consequences
Recruiting
- Conditions
- congenital hemolytic anemia, anemia, hereditary hemolytic anemia, sickle cell disease, thalassemia, pyruvate kinase deficiency, G6PD, spherocytosis.(Congenitale hemolytische anemie, anemie, sikkelcel ziekte, thalassemie, PKD, G6PD, sferocytose)
- Registration Number
- NL-OMON22083
- Lead Sponsor
- niversity Medical Center, Utrecht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 100
Inclusion Criteria
Adult patients who meet the criteria of non-immune mediated hemolytic anemia in whom acquired causes have been excluded in the diagnostic track. Such patients can be subdivided into 4 main categories:
1. red cell membrane disorders, e.g. hereditary spherocytosis
Exclusion Criteria
Inability to give informed consent
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method To create insight in current disease burden by creating a descriptive cohort of patients, diagnosed with rare congenital hemolytic anemia.<br /><br>Points of interest are:<br /><br>- Prevalence and incidence of disease<br /><br>- Quality of life<br /><br>- Prevalence and incidence of iron overload<br /><br>- Prevalence and incidence of comorbidities and related silent organ damage<br /><br>- Prevalence and incidence of splenectomy and complications<br>
- Secondary Outcome Measures
Name Time Method To further analyze the pathophysiology of congenital hemolytic anemia: to perform a case control study comparing patient parameters and healthy control parameters. <br /><br>Parameters of interest are:<br /><br>1. The tolerability of low hemoglobin levels in rare congenital hemolytic anemia patients.<br /><br>2. Patterns in laboratory parameters: pro-inflammatory profile, Red blood cell characteristics, microparticle analysis, and markers of coagulation activation.<br /><br>3. RNA seq parameters for peripheral blood mononuclear cell transcriptome mapping using blood sample analysis and then compare and relate outcome to other results of the study. <br>