Congenital hemolytic anemia: causes, symptoms and consequences

Clinical sequelae and pathophysiology of rare congenital hemolytic anemias

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON22083

Enrollment

100

Registered

2015-07-30

Start date

2015-09-01

Completion date

Unknown

Last updated

2024-06-11

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

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)

Interventions

None listed

Eligibility

Inclusion criteria

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 2. disorders of hemoglobin, e.g. thalassemia 3. metabolic disorders, e.g. pyruvate kinase deficiency 4. hemolytic anemia e.c.i.

Exclusion criteria

Exclusion criteria: Inability to give informed consent

Design outcomes

Primary

Measure	Time frame
To create insight in current disease burden by creating a descriptive cohort of patients, diagnosed with rare congenital hemolytic anemia. Points of interest are: - 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	—

Secondary

Measure	Time frame
To further analyze the pathophysiology of congenital hemolytic anemia: to perform a case control study comparing patient parameters and healthy control parameters. Parameters of interest are: 1. The tolerability of low hemoglobin levels in rare congenital hemolytic anemia patients. 2. Patterns in laboratory parameters: pro-inflammatory profile, Red blood cell characteristics, microparticle analysis, and markers of coagulation activation. 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.	—

Measure

Time frame

To further analyze the pathophysiology of congenital hemolytic anemia: to perform a case control study comparing patient parameters and healthy control parameters. Parameters of interest are: 1. The tolerability of low hemoglobin levels in rare congenital hemolytic anemia patients. 2. Patterns in laboratory parameters: pro-inflammatory profile, Red blood cell characteristics, microparticle analysis, and markers of coagulation activation. 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.

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Contacts

Public ContactH.A.S. van Straaten

Heidelberglaan 100

h.a.s.vanstraaten-3@umcutrecht.nl

Outcome results