Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine
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.
• Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia:
• Sickle cell disease
• Thalassemic syndromes
• Congenital dyserythropoietic anemia
• Enzymopathy
• Unstable Hemoblogin / Altered oxygen affinity
• Hereditary stomatocytosis
• Hereditary pyropoikilocytosis
• Hereditary spherocytosis with severe anemia (\<8 g/dL) or inconclusive diagnosis:
• Patient with chronic hemolytic anemia and red cell smear compatible, but with:
• EMA binding test: inconclusive or negative
• Genetic testing: no definitive diagnosis (VUS or no findings)
• Not transplanted or undergoing gene therapy at the time of inclusion. Patients with graft failure without a new transplant may be included.