title: Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.
abstract: Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS). Fanconi anemia (FA) is a genetic disorder associated to redox imbalance and dysfunctional response to OS. Clinically, it is characterized by progressive bone marrow failure, which remains the primary cause of morbidity and mortality. Macrocytosis and increased fetal hemoglobin, two indicators of bone marrow stress erythropoiesis, are generally the first hematological manifestations to appear in FA. However, the significance of RDW and its possible relation to stress erythropoiesis have never been explored in FA. In the present study we analyzed routine complete blood counts from 34 FA patients and evaluated RDW, correlating with the hematological parameters most consistently associated with the FA phenotype.
  
  
  
  We showed, for the first time, that RDW is significantly increased in FA. We also showed that increased RDW is correlated with thrombocytopenia, neutropenia and, most importantly, highly correlated with anemia. Analyzing sequential hemograms from 3 FA patients with different clinical outcomes, during 10 years follow-up, we confirmed a consistent association between increased RDW and decreased hemoglobin, which supports the postulated importance of RDW in the evaluation of hematological disease progression.
  
  
  
  This study shows, for the first time, that RDW is significantly increased in FA, and this increment is correlated with neutropenia, thrombocytopenia, and highly correlated with anemia. According to the present results, it is suggested that increased RDW can be a novel marker of stress erythropoiesis in FA.
authors.affiliation: Laboratory of Cytogenetics, Abel Salazar Institute for Biomedical Sciences, University of Porto (ICBAS, UP), Porto, Portugal.
authors.forename: Rosa
authors.initials: R
authors.lastname: Sousa
authors.affiliation: Clinical Hematology Service, Hospital Center of Porto (CHP), Porto, Portugal.
authors.forename: Cristina
authors.initials: C
authors.lastname: Gonçalves
authors.affiliation: Pediatric Hematology Unity, Hospital Center of Porto (CHP), Porto, Portugal.
authors.forename: Isabel Couto
authors.initials: IC
authors.lastname: Guerra
authors.affiliation: Pediatric Hematology Unity, Hospital Center of Porto (CHP), Porto, Portugal.
authors.forename: Emília
authors.initials: E
authors.lastname: Costa
authors.affiliation: Pediatric Hematology-Oncology Unity, Hospital Center of S. João, Porto (CHSJ), Porto, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Fernandes
authors.affiliation: Pediatric Hematology-Oncology Unity, Hospital Center of S. João, Porto (CHSJ), Porto, Portugal.
authors.forename: Maria
authors.initials: M
authors.lastname: do Bom Sucesso
authors.affiliation: Hematology Service, Hospital and University Center of Coimbra (CHUC), Porto, Portugal.
authors.forename: Joana
authors.initials: J
authors.lastname: Azevedo
authors.affiliation: Laboratory of Cytogenetics, National Institute of Pediatrics, Ciudad de Mexico (INP), Mexico City, Mexico.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Rodriguez
authors.affiliation: Laboratory of Cytogenetics, National Institute of Pediatrics, Ciudad de Mexico (INP), Mexico City, Mexico.
authors.forename: Rocio
authors.initials: R
authors.lastname: Rius
authors.affiliation: Clinical Pathology Service, Infante D. Pedro Hospital, Aveiro (CHBV), Aveiro, Portugal.
authors.forename: Carlos
authors.initials: C
authors.lastname: Seabra
authors.affiliation: Hematology Service, Hospital Center of S. João, Porto (CHSJ), Porto, Portugal.
authors.forename: Fátima
authors.initials: F
authors.lastname: Ferreira
authors.affiliation: Hematology Service, Hospital and University Center of Coimbra (CHUC), Porto, Portugal.
authors.forename: Letícia
authors.initials: L
authors.lastname: Ribeiro
authors.affiliation: Pediatric Service, Hospital Center of Lisboa Norte (CHLN), Lisbon, Portugal.
authors.forename: Anabela
authors.initials: A
authors.lastname: Ferrão
authors.affiliation: Medical Genetics and Prenatal Diagnosis Prof Doctor Sérgio Castedo, Porto (GDPN), Porto, Portugal.
authors.forename: Sérgio
authors.initials: S
authors.lastname: Castedo
authors.affiliation: Pediatric Hematology Unity, Hospital Center of Porto (CHP), Porto, Portugal.
authors.forename: Esmeralda
authors.initials: E
authors.lastname: Cleto
authors.affiliation: Clinical Hematology Service, Hospital Center of Porto (CHP), Porto, Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Coutinho
authors.affiliation: UCIBIO-REQUIMTE, Laboratory of Toxicology, Department of Biological Sciences, Faculty of Pharmacy, University of Porto, Porto, Portugal.
authors.forename: Félix
authors.initials: F
authors.lastname: Carvalho
authors.affiliation: Pediatric Hematology Unity, Hospital Center of Porto (CHP), Porto, Portugal.
authors.forename: José
authors.initials: J
authors.lastname: Barbot
authors.affiliation: Laboratory of Cytogenetics, Abel Salazar Institute for Biomedical Sciences, University of Porto (ICBAS, UP), Porto, Portugal. bporto@icbas.up.pt.
authors.forename: Beatriz
authors.identifier: 0000-0003-4281-5438
authors.initials: B
authors.lastname: Porto
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D003582:Cytogenetics; D004912:Erythrocytes / Q000378:metabolism* / Q000502:physiology; D004920:Erythropoiesis / Q000235:genetics / Q000502:physiology*; D005199:Fanconi Anemia / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D018384:Oxidative Stress / Q000235:genetics / Q000502:physiology
chemical_list: D015415:Biomarkers
keywords: Bone marrow failure (BMF); Fanconi anemia (FA); Oxidative stress (OS); Red cell distribution width (RDW); Stress erythropoiesis