hemoglobinopathy Sickle cell disease
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Inclusion criteria SCD patients To be eligible to participate in this study, a subject must meet all the following criteria: o Age 12 years or older o High performance liquid chromatography (HPLC) confirmed diagnosis of HbSS/HbSß0 o Willing and able to provide written informed consent o For children 12-16 years: additional written informed consent of parent/caretaker Inclusion criteria healthy volunteers To be eligible to participate in this study, a subject must meet all the following criteria: o Age 18 years or older o Willing and able to provide informed consent o No self-reported medical issues that could interfere with immunity o Originating (or parents originating) from region where SCD occurs
Exclusion criteria
Exclusion criteria: Exclusion criteria SCD patients A potential subject who meets any of the following criteria will be excluded from participation in this study: o History of allogeneic SCT o Participation in Amsterdam UMC SCT biobank because of planned allogeneic SCT o History of chronic infection or autoimmune inflammatory disease o Pregnancy, self-reported o Vaso-occlusive disease in the preceding 4 weeks, self-reported o Red blood cell transfusion in the preceding 3 months, self-reported Exclusion criteria for healthy volunteers A potential subject who meets any of the following criteria will be excluded from participation in this study: o Carriership of sickle cell gene or other hemoglobinopathy, self-reported o Chronic infection, self-reported o Chronic auto-inflammatory disease, self-reported o Use of chronic medication that affects the immune system, self-reported
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The characterization of PBMC subsets in SCD patients with the HbSS/HbSß0 genotype as compared to matched healthy controls in order to elucidate potential perturbations in the adaptive immunity (PBMC subsets) in SCD. | — |
Secondary
| Measure | Time frame |
|---|---|
| The identification of differences between the immunophenotypic profile of PBMC subsets of adolescent SCD patients compared to matched healthy controls. The identification of differences between the immunophenotypic profile of PBMC subsets of adult and adolescent HbSS/HbSß0 genotype SCD patients. The determination of general T-cell effector function in steady state SCD patients in order to establish a reference that can be used in further research evaluation T-cell function after allogeneic SCT for SCD. | — |
Countries
Netherlands