Congenital hemolytic anemia: causes, symptoms and consequences

Rationale: Rare congenital hemolytic anemias share a common clinical picture and common pathophysiologic pathways such as iron overload, severe anemia and hemolysis. These patients develop comparable organ damage to patients with more common and more studied congenital hemoglobinopathies such as thalassemia and sickle cell disease. Treatment nowadays is mainly supportive. Research is necessary in order to find the best monitoring- and treatment regimens.
Objective: To create insight in current disease burden by creating a descriptive cohort of patients, diagnosed with rare congenital hemolytic anemia. To further analyze the pathophysiology of congenital hemolytic anemia by performing a case control study comparing patient parameters and healthy control parameters.
Study design: longitudinal observational descriptive cohort study and case-control study

Study population: All patients diagnosed with rare congenital hemolytic anemia. The majority of this patient group will be composed of patients with hereditary red blood cell membranopathies and red blood cell enzyme disorders.



Main study parameters/endpoints:

Prevalence and incidence of disease

Quality of life

Prevalence and incidence of iron overload

Prevalence and incidence of comorbidities and related silent organ damage

Prevalence and incidence of splenectomy and complications

The study consist of medical chart review, yearly two short quality of live questionnaires, a 6 minute walking test and one additional venipuncture.

Observational study. We aim to analyze the clinical consequences of congenital hemolytic anemia in order to treat and monitor patients optimally. Secondary, we aim to gain understanding in the pathophysiology of congenital hemolytic anemia

Enrollment, 1 year after enrollment, 2 years after enrollment

not applicable