Thalassemia, sickle cell disease, hemoglobinopathies, hereditary hemolytic anemias Thalassemia, sickle cell disease, inherited blood disorders/anemia
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Adolescents and adults, =16 years oldParticipant diagnosed with thalassemia, sickle cell disease (SCD) or another form of hereditary hemolytic anemia (HHA).In case of thalassemia or SCD: diagnosis has been established via electrophoresis, HPLC and/or DNA analysis.In case of any other HHA: diagnosis has been established via morphological analysis, osmotic gradient ektacytometry, the osmotic fragility test, the EMA-binding test, determination of spectrin levels, measurement of enzymatic activity and thermostability, and/or DNA analysis, depending on the appropriate test for each specific disease.Participant is willing and able to give informed consent
Exclusion criteria
Exclusion criteria: Children, <16 years oldWomen who are pregnantRecent blood transfusion (within three months prior to blood withdrawal)*Patients with current/active infection*With the exception of transfusion-dependent thalassemia patients
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Optimizing oxidant-ektacytometry conditions to improve the discrimination of thalassemia patients, to gain insight into the susceptibility of RBCs to exogenous oxidative stress across different genetic subgroups of thalassemia. | — |
Secondary
| Measure | Time frame |
|---|---|
| Optimizing oxidant-ektacytometry conditions (type of oxidant) to improve the discrimination of SCD patients, to gain insight into the susceptibility of RBCs to exogenous oxidative stress across different genetic subgroups of sickle cell disease. To explore how different oxidants and anti-oxidants affect results of oxidant-ektacytometry.To explore the association of oxidant-ektacytometry measurements with clinical symptoms and condition, hematological parameters, markers of hemolysis, markers of inflammation, and other markers of oxidative stress (e.g. antioxidative enzyme activity, non-enzymatic antioxidants, protein oxidation, lipid peroxidation, reactive oxygen species). | — |
Countries
Netherlands
Contacts
Erasmus MC, Universitair Medisch Centrum Rotterdam