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.
Sickle cell disease
Thalassemic syndromes
Congenital dyserythropoietic anemia
Enzymopathy
Carrier traits in autosomal recessive hereditary anemias
Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia.
Cohort
Prospective
Analysis of genetic modifiers
GeneticGenetic modifiers for rare anemia disorders will be analyzed through massive sequencing.
Disease phenotyping
Diagnostic testPeripheral 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®)
To assess the prognostic value of LoRRca ektacytometry as biomarker providing information of SCD/RADs patients severity
Severity was assesed as the occurence of: * Vaso-occlusive events (VOEs) in the last 24 months * Kidney injury (defined according to KDIGO guidelines) * Retinopathy (defined as proliferative and non proliferative)
To investigate the correlation between LoRRca ektacytometry parameters and SCD/RADs patients genetic and phenotypic characterization.
Genomic data will be generated using a targeted next-generation sequencing (tNGS) approach. Means, medians, standard deviations (SD), ranges and percentages were calculated using SPSS software (version 20, IBM SPSS Statistics, Chicago, IL, USA). Spearman's rank correlation was used to assess associations between variables. For comparing variables with two categories, either a student's t-test or a Mann-Whitney U test was performed, when appropriate. When the variable had more than two categories, an ANOVA or Kruskal Wallis test was used. A p value \<0.05 was considered statistically significant.
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Hospital Universitari Vall d'Hebron Research Institute
Lead sponsor
Hospital Clinic of Barcelona
Collaborator
Institute for Bioengineering of Catalonia
Collaborator
Hospital Arnau de Vilanova, Lleida (Spain)
Collaborator
