dc.contributor
Institut Català de la Salut
dc.contributor
[van der Veen S] Center for Benign Hematology, Thrombosis and Hemostasis – Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands. [Jans JJM] Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands. [van Beers EJ] Center for Benign Hematology, Thrombosis and Hemostasis – Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. [Biemond BJ] Department of Hematology, Amsterdam University Medical Centers, AUMC, Amsterdam, the Netherlands. [Bartolucci P] University Paris-Est-Créteil, IMRB, Inserm U955, Henri Mondor University Hospitals, APHP, Sickle Cell Referral Center-UMGGR, Creteil, France. [Boaro MP] UOC Oncoematologia Pediatrica, Azienda Ospedale-Università Padova, Padova, Padua, Italy. [Collado Gimbert A] Servei d’Hematologia i Oncologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Càncer i Malalties Hematològiques Infantils, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Idrizovic A] Grup de Recerca de Càncer i Malalties Hematològiques Infantils, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Genetics and Microbiology department, Universitat Autònoma de Barcelona, Bellaterra (Cerdanyola del Vallès), Barcelona, Spain. [Mañú Pereira M] Grup de Recerca de Càncer i Malalties Hematològiques Infantils, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
van der Veen, Sigrid
dc.contributor.author
Jans, Judith J.M.
dc.contributor.author
van Beers, Eduard
dc.contributor.author
Biemond, Bart J.
dc.contributor.author
Bartolucci, Pablo
dc.contributor.author
Boaro, Maria Paola
dc.contributor.author
Idrizovic, Amira
dc.contributor.author
Collado Gimbert, Anna
dc.contributor.author
Mañú Pereira, María del Mar
dc.date.accessioned
2025-12-16T06:18:33Z
dc.date.available
2025-12-16T06:18:33Z
dc.date.issued
2025-12-15T13:38:08Z
dc.date.issued
2025-12-15T13:38:08Z
dc.identifier
van der Veen S, Jans JJM, van Beers EJ, Biemond BJ, Bartolucci P, Boaro MP, et al. Metabolomics in sickle cell disease: Current knowledge and gaps – A scoping review. Blood Rev. 2025 Nov;74:101338.
dc.identifier
http://hdl.handle.net/11351/14149
dc.identifier
10.1016/j.blre.2025.101338
dc.identifier.uri
http://hdl.handle.net/11351/14149
dc.description.abstract
Hemoglobinopathy; Mass spectrometry; Metabolism
dc.description.abstract
Hemoglobinopatía; Espectrometría de masas; Metabolismo
dc.description.abstract
Hemoglobinopatia; Espectrometria de masses; Metabolisme
dc.description.abstract
Sickle cell disease (SCD) has large phenotypic variability. Systematic metabolomic profiling may provide insights into phenotypes and treatment responses. We conducted a scoping review on associations between blood metabolites, SCD-related complications, and therapies in studies analyzing ≥10 metabolites in red blood cells, whole blood, and plasma. Lipidomics-focused studies were excluded. Fifteen studies were included, focusing on metabolic profiling, clinical outcomes, or therapies (hydroxyurea, transfusion, and mitapivat). Metabolic profiling differentiated SCD from healthy controls and patients with HbSS and HbSC genotypes. Associations with hemolysis, vaso-occlusive events, nephropathy, TRV, and mortality were identified. Overall, metabolites were involved in arginine, tryptophan, glutamate metabolism, glycolysis, pentose phosphate pathway, and the Lands cycle. Some metabolites showed opposite correlations across complications or sample types. Despite growing interest, gaps remain in study designs, metabolite selection, genotype representation, and underexplored complications and therapies. Standardized, large-scale metabolomics studies are needed to advance personalized treatment in SCD.
dc.description.abstract
This scoping review was supported by: • GA 101017549 – GENOMED4ALL - H2020-SC1-FA-DTS-2020-1. ‘Genomics and Personalized Medicine for all through Artificial Intelligence in Haematological Diseases’. • GA 101085717 – ERN-EuroBloodNet – EU4H-2022-ERN-IBA-01 - European Reference Network on Rare hematological diseases – ERN-EuroBloodNet.
dc.format
application/pdf
dc.relation
Blood Reviews;74
dc.relation
https://doi.org/10.1016/j.blre.2025.101338
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Marcadors bioquímics
dc.subject
Anèmia de cèl·lules falciformes
dc.subject
DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Hemolytic::Anemia, Hemolytic, Congenital::Anemia, Sickle Cell
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CHEMICALS AND DRUGS::Biological Factors::Biomarkers
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DISCIPLINES AND OCCUPATIONS::Natural Science Disciplines::Biological Science Disciplines::Biochemistry::Metabolomics
dc.subject
ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia hemolítica::anemia hemolítica congénita::anemia de células falciformes
dc.subject
COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores
dc.subject
DISCIPLINAS Y OCUPACIONES::disciplinas de las ciencias naturales::disciplinas de las ciencias biológicas::bioquímica::metabolómica
dc.title
Metabolomics in sickle cell disease: Current knowledge and gaps – A scoping review
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
