Integrative Diagnosis for SCD and Other RADs
Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine
About This Trial
INTEGRA aims at enabling personalized medicine for RHADs patients by the establishment of an integrative diagnostic approach based on deep phenotypic and genetic characterization through combining new generation methodologies.
Who May Be Eligible (Plain English)
Original Eligibility Criteria
View original clinical language
Treatments Being Tested
Analysis of genetic modifiers
Genetic modifiers for rare anemia disorders will be analyzed through massive sequencing.
Disease phenotyping
Peripheral blood samples will be used for conventional phenotyping characterization including among others: RBCs morphology, fragility osmotic test, hemoglobin fraction and quantification, hemoglobin stability test, EMA binding test, RBC enzymes quantification assay, RBC rheological properties through Lorrca Maxsis Osmoscan/Oxygescan (Lorrca®)