Disturbed ion homeostasis in hereditary hemolytic anaemia

Completed

• Conditions: bloedarmoede; heriditary hemolytic anaemia; 10038158

• Registration Number: NL-OMON43679
• Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 140

Inclusion Criteria

Patient suffering from HHA, based on the following criteria;
• A proposed RBC ion homeostasis disturbance due to a primary cause; membrane defects (spherocytosis, stomatocytosis) of the red blood cell (previously diagnosed by with a decreased EImax detected by osmotic gradient ektacytometry, or altered osmotic fragility, or altered EMA-binding test, or mutations found in SPTA1, SPTB, SLC4A1, ANK1, EPB41, EPB42, PIEZO1, RHAG.
• A proposed RBC ion homeostasis disturbance due to a secondary cause; hemoglobinopathies (sickle cell anaemia, thallasemia) or enzymopathies of the red cell (previously diagnosed by detection of HbA2, HbF, HbS, HbE, HbD, HbC by electrophoresis, or decreased enzyme activity in red blood cell enzymes (PK, HK, G6PD, GPI, F-ALD, TPI, PGK, BPGM, GSR), or mutations found in HBA1, HBA2, HBB, PFKM, PGK1, G6PD, GPI1, HK1, PKLR)
• Hemolytic anemia due to an unknown cause; patients previously screened for iron deficiency anaemia and other forms of nutritional deficiency anaemia, anaemia due to chronic illnesses or infection, membrane defects of the red cell, hemoglobinopathies and/or enzymopathies, without the detection of a (molecular) cause for the haemolytic anaemia.
- Biological parent of a patient suffering from haemolytic anaemia due to an unknown cause

Exclusion Criteria

- Transfusion (erythrocyte concentrate) received in the last 90 days
- For children: body weight <= 18kg
- Age <= 3 years

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified