hereditary hemoglobinopathy sickle cell disease
Conditions
Interventions
Investigating changes in red blood cell deformability upon deoxygenation in the laboratory.
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: • No blood transfusion within the past 2 months (only in case of hydrea therapy and newborns) • Diagnosed with sickle cell disease by electrophoresis or HPLC. • Starting with Hydrea therapy or getting blood transfusion or HSCT or gene therapy, or newborn with SCD, or in steady state with treatment or without treatment. When included in baseline cohort: no treatment, or on chronic blood transfusion or steady state under hydroxyurea. • Adults patients or parents/legal guardians (and child depending on age) must give informed consent
Exclusion criteria
Exclusion criteria: • Blood transfusion within past 2 months (not a criteria in patients who are treated with blood transfusion) • Body weight below 10 kg (not a criteria in newborns) • Age
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Investigating changes in red blood cell deformability, before and during treatment with hydroxyurea, or before and after blood transfusion, or during the first 9 months of life, as measured with the hyperoxia-hypoxia Lorrca module in SCD patients, patients with SCD and HbC disease, and patients with SCD and thalassemia. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. To assess changes in RBC deformability measured with other Lorrca modules during 6 months of HU treatment, or just before and after blood transfusion, before and after HSCT or gene therapy, or during the first 9 months of life. 2. To explore the association between ektacytometry measurements at different time points with clinical symptoms and signs, haematological parameters and oxidative stress markers. | — |
Countries
Netherlands
Contacts
Public ContactM.A.E. Rab
Universitair Medisch Centrum Utrecht
Outcome results
None listed