anaemia herideritarty hemolytic anaemia
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
12 Years to 99 Years
Inclusion criteria
Inclusion criteria: Know and unknown cause of (heriditary) hemolytic anaemia, low Hb, high plasma hemoglobin and/or or family member to be known with (heriditary) hemolytic anaemia
Exclusion criteria
Exclusion criteria: Transfusion received within 90 days
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| o Red blood cell hematology parameters; cytology and biochemistry o Red blood cell morphology o Quantity and size distribution of (RBC) microvesicles o Eosin-5-maleimide (EMA) binding on surface of red blood cells o Intracellular Ca2+, Na+ and K+ levels o Na+ uptake and K leak by red blood cells o Activity of transporters NHE, NKCC, Na/K-ATPase, Gardos channes and other channels/conductance o Conductance and patch-clamp measurements of red blood cells o CD47 presentation o 2,3-DPG measurement o Band 3 clustering o ATP concentration o Glutathione measurement: ratio between GSH/GSSG o Osmotic fragility o Density o Enzyme activity o Osmotic gradient ektacytometry (LoRRca MaxSis) o Deformability (LoRRca MaxSis) o PS exposure o DNA analysis for candidate ion channels by PCR and Next Generation Sequencing: Band3, spectrin, ankyrin, protein 4.2, EPB72/STOM, KCNN4, TRPC6, GRIN1, GRIN2A, GRIN2C, GRIN2D, GRIN3A, GRIN3B, SLC9A1, ATP11C, XK, AQP1, AQP3, ATP1A2, ACHE, CAII, SLC16A1, VDAC3, TSPO, SLC25A4, CLCN2, PIEZO1 | — |
Countries
Netherlands
Outcome results
None listed