Sistema de Salut de Catalunya
van der Veen, Sigrid
Jans, Judith J.M.
van Beers, Eduard
Biemond, Bart J.
Bartolucci, Pablo
Boaro, Maria Paola
Idrizovic, Amira
Collado Gimbert, Anna
Mañú Pereira, María del Mar
Institut Català de la Salut
[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
Vall d'Hebron Barcelona Hospital Campus
2025-12-15T13:38:08Z
2025-12-15T13:38:08Z
2025-11
Hemoglobinopathy; Mass spectrometry; Metabolism
Hemoglobinopatía; Espectrometría de masas; Metabolismo
Hemoglobinopatia; Espectrometria de masses; Metabolisme
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.
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.
English
Metabolòmica; Marcadors bioquímics; Anèmia de cèl·lules falciformes; DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Hemolytic::Anemia, Hemolytic, Congenital::Anemia, Sickle Cell; CHEMICALS AND DRUGS::Biological Factors::Biomarkers; DISCIPLINES AND OCCUPATIONS::Natural Science Disciplines::Biological Science Disciplines::Biochemistry::Metabolomics; ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia hemolítica::anemia hemolítica congénita::anemia de células falciformes; COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores; DISCIPLINAS Y OCUPACIONES::disciplinas de las ciencias naturales::disciplinas de las ciencias biológicas::bioquímica::metabolómica
Elsevier
Blood Reviews;74
https://doi.org/10.1016/j.blre.2025.101338
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3375]
