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myelodysplastic syndromes, transferrin saturation

Louise de Swart, Chloé Reiniers, Timothy Bagguley, Corine van Marrewijk, David Bowen, Eva Hellström-Lindberg, Aurelia Tatic, Argiris Symeonidis, Gerwin Huls, Jaroslav Cermak, Arjan A van de Loosdrecht, Hege Garelius, Dominic Culligan, Mac Macheta, Michail Spanoudakis, Panagiotis Panagiotidis, Marta Krejci, Nicole Blijlevens, Saskia Langemeijer, Jackie Droste, Dorine W Swinkels, Alex Smith, Theo de Witte
Red blood cell transfusions remain one of the cornerstones in supportive care of lower-risk patients with myelodysplastic syndromes. We hypothesized that patients develop oxidant-mediated tissue injury through the formation of toxic iron species, caused either by red blood cell transfusions or by ineffective erythropoiesis. We analyzed serum samples from 100 lower-risk patients with myelodysplastic syndromes at six-month intervals for transferrin saturation, hepcidin-25, growth differentiation factor 15, soluble transferrin receptor, non-transferrin bound iron and labile plasma iron in order to evaluate temporal changes in iron metabolism and the presence of potentially toxic iron species and their impact on survival...
January 2018: Haematologica
Axel Ruefer, Christine Bapst, Rudolf Benz, Jens Bremerich, Nathan Cantoni, Laura Infanti, Kaveh Samii, Mathias Schmid, Jean-Paul Vallée
Hyperferritinaemia is a frequent clinical problem. Elevated serum ferritin levels can be detected in different genetic and acquired diseases and can occur with or without anaemia. It is therefore important to determine whether hyperferritinaemia is due to iron overload or due to a secondary cause. The main causes of iron overload are intestinal iron hyperabsorption disorders and transfusion-dependent disorders. Iron homeostasis and iron overload are quantified by different diagnostic approaches. The evaluation of serum ferritin and transferrin saturation is the first diagnostic step to identify the cause of hyperferritinaemia...
November 9, 2017: Swiss Medical Weekly
L L Song, Q Q Zheng, C Xiao, J Guo, D Wu, J Y Su, L Y Zhou, C K Chang
Objective: To investigate the abnormalities of iron metabolism parameters, the prevalence and risk factors of iron overload and clinical characteristics of patients with myelodysplastic syndromes(MDS). Methods: Retrospective investigation was used to observe abnormal iron metabolism parameters and clinical characteristics of newly diagnosed 94 MDS patients in our center from June 2015 to March 2016. Results: Of 94 patients, 71(75.53%)had a hemoglobin level of less than 100 g/L at diagnosis. Iron overload was observed in 52(55...
October 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Louise de Swart, Jan C M Hendriks, Lisa N van der Vorm, Z Ioav Cabantchik, Patricia J Evans, Eldad A Hod, Gary M Brittenham, Yael Furman, Boguslaw Wojczyk, Mirian C H Janssen, John B Porter, Vera E J M Mattijssen, Bart J Biemond, Marius A MacKenzie, Raffaella Origa, Renzo Galanello, Robert C Hider, Dorine W Swinkels
Non-transferrin-bound iron and its labile (redox active) plasma iron component are thought to be potentially toxic forms of iron originally identified in the serum of patients with iron overload. We compared ten worldwide leading assays (6 for non-transferrin-bound iron and 4 for labile plasma iron) as part of an international inter-laboratory study. Serum samples from 60 patients with four different iron-overload disorders in various treatment phases were coded and sent in duplicate for analysis to five different laboratories worldwide...
January 2016: Haematologica
Qian Zhang, Bo Hou, Lu Wang, Yali Du, Bing Han, Feng Feng
OBJECTIVE: To use the technique of magnetic resonance imaging (MRI) T2* mapping to diagnose and follow-up of patients with iron overload. METHODS: 107 patients who were suspected to have iron overload between 2011.7-2014.3 in Peking Union Medical Colleague Hospital were analyzed retrospectively. Patients had the document of MRI T2* value of liver, heart and pancreas, serum ferritin (SF), transferrin saturation (TS), transfusion amount and other related laboratory tests...
April 2015: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
John B Porter, Mohsen El-Alfy, Vip Viprakasit, Stephane Giraudier, Lee Lee Chan, Yongrong Lai, Ali El-Ali, Jackie Han, Maria D Cappellini
OBJECTIVES: Plasma markers in addition to serum ferritin (SF) may be useful for the assessment of iron overload; however, predictive utility may differ depending on underlying, transfusion-dependent, anemias. METHODS: Data were collected before and after 1 year of deferasirox treatment (end of study; EOS) from the large, 1-year EPIC (Evaluation of Patients' Iron Chelation with Exjade(®) ) study. Trends were evaluated between liver iron concentration (LIC), transferrin saturation (TfSat), predose labile plasma iron (LPI) and their relationship to SF categories in 1530 patients: thalassemia major (TM; n = 1114), myelodysplastic syndromes (MDS, n = 336), and sickle-cell disease (SCD, n = 80)...
January 2016: European Journal of Haematology
Veronika Bach, Guenter Schruckmayer, Ines Sam, Georg Kemmler, Reinhard Stauder
BACKGROUND: Anemia in later life is associated with increased morbidity and mortality. The purpose of this study was to evaluate the prevalence and possible causes of anemia in the elderly in a well defined hospital cohort. METHODS: Participants in this cross-sectional, retrospective analysis included all inpatients and outpatients aged ≥64 years with complete blood counts treated at Innsbruck Medical University Hospital between October 1, 2004 and September 29, 2005 (n=19,758, median age 73 years)...
2014: Clinical Interventions in Aging
Rui Cui, Robert Peter Gale, Guoqing Zhu, Zefeng Xu, Tiejun Qin, Yue Zhang, Gang Huang, Bing Li, Liwei Fang, Hongli Zhang, Lijuan Pan, Naibo Hu, Shiqiang Qu, Zhijian Xiao
Dysregulation of hepcidin, a key iron regulating hormone, is important in the pathogenesis of iron overload in patients with myelodysplatic syndrome (MDS). However, most studies of hepcidin levels are complicated by concomitant RBC transfusions. To evaluate the relationship between iron metabolism and erythropoiesis, we measured serum levels of hepcidin, growth-differentiation factor-15 (GDF15) and other markers of erythropoiesis in 107 subjects with MDS not receiving RBC transfusions. Patients with MDS had significantly higher levels of hepcidin than normals...
May 2014: Leukemia Research
Ying Yang, Bo Yang, Zhi-Peng Liang
This study was purposed to investigate the iron metabolism changes and their clinical significance in myelodysplastic syndrome (MDS). Thirty eight transfusion independent MDS patients and 49 controls (21 AA patients, 28 normal volunteers) were enrolled in this study. The iron metabolism indicators including serum iron protein (SF), serum iron (SI), transferrin protein (Tf), total iron binding capacity (TIBC), transferrin saturation (TS), soluble transferrin receptor (sTfR) were detected, the intracellular and extracellular iron distribution were observed under microscope, the chromosome karyotype was analysis by FISH...
August 2013: Zhongguo Shi Yan Xue Ye Xue za Zhi
Esther Zipperer, Jochen G Post, Matthias Herkert, Andrea Kündgen, Frank Fox, Rainer Haas, Norbert Gattermann, Ulrich Germing
Patients with myelodysplastic syndromes (MDS) often show elevated serum ferritin levels at diagnosis, probably caused by increased intestinal iron uptake attributable to ineffective erythropoiesis. Many patients also develop transfusional iron overload. Hepcidin, a pivotal regulator of iron homeostasis, controls iron uptake in the duodenum as well as iron release from macrophages and is potentially involved in iron distribution to different organs. We measured serum hepcidin, together with other laboratory parameters related to iron metabolism and hematopoiesis (ferritin, transferrin, transferrin saturation, soluble transferrin receptor, erythropoietin, and hemoglobin), and C-reactive protein as marker of inflammation, in 89 MDS patients...
December 2013: Annals of Hematology
Eric Pautas, Virginie Siguret, Thi Mai Anh Kim, Pascal Chaïbi, Jean-Louis Golmard, Adeline Gouronnec, Valérie Nivet-Antoine, Isabelle Gouin-Thibault
Anemia, the most common hematological disorder in the elderly, increases the risk of mortality and morbidity and adversely affects quality of life. However, few studies focused specifically on anemia in the elderly, especially regarding the underlying causes. The main objective of this prospective study was to evaluate the causes of anemia in non-institutionalized elderly patients. We included 190 consecutive patients ≥70 years, admitted to a geriatric short-stay unit over a 1-year period. When the hemoglobin level was <120 g/L, the following serum assays were performed routinely: iron, ferritin, transferrin saturation, folate, vitamin B12, C-reactive protein, TSH, albumin, and haptoglobin...
November 2012: Annales de Biologie Clinique
Ling Nie, Lin Li, Lin Yang, Yue Zhang, Zhijian Xiao
The incidence of HFE gene mutations in myelodysplastic syndrome (MDS) cases remains controversial. In this study, we examined the HFE C282Y and H63D mutations in 271 Chinese patients with MDS, 402 with aplastic anemia (AA) and 1,615 healthy controls by polymerase chain reaction-restriction fragment length polymorphism in combination with DNA sequencing. No C282Y mutations were observed in the entire cohort. The distribution of H63D heterozygous and homozygous genotypes was not significantly different between the AA cases and the controls (9...
December 2010: Annals of Hematology
Ling Nie, Xiao-Fei Ai, Yi-Zhou Zheng, Qing-Hua Li, Lin Yang, Zhi-Jian Xiao
OBJECTIVE: To detect the incidence of the HFE gene C282Y and H63D mutations in patients with myelodysplastic syndromes (MDS) and aplastic anemia (AA), and analyze the relationship of these mutations with iron metabolism, and organs impairment from iron overload. METHODS: The incidence of the C282Y and H63D mutations in 271 MDS, 402 AA patients and 1615 normal subjects was measured by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) combining with DNA sequencing...
April 2009: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
F Wimazal, T Nösslinger, C Baumgartner, W R Sperr, M Pfeilstöcker, P Valent
BACKGROUND: Transfusion-related morbidity is an emerging problem in chronically transfused patients with myelodysplastic syndromes (MDS). Although several iron-chelating drugs are available, the optimal way of treatment of iron-overload remains uncertain. A major disadvantage of deferoxamine is that the drug has to be applied as continuous subcutaneous infusion. Therefore, novel oral agents have been developed. One of these drugs is deferasirox (Exjade). MATERIALS AND METHODS: We report on 14 MDS patients who were treated with deferasirox (500-1500 mg daily) for up to 24 months...
May 2009: European Journal of Clinical Investigation
Mario Cazzola, Matteo G Della Porta, Luca Malcovati
Most patients with myelodysplastic syndrome eventually become dependent on regular red cell transfusions. This dependency has a negative impact on clinical outcome, primarily because it may be associated with more severe marrow failure. In addition, however, transfusion dependency may involve clinical consequences of chronic anemia and iron overload. Although transfusion iron is primarily taken up by the reticuloendothelial cells, the metal is later redistributed to parenchymal cells. This redistribution is modulated by several factors, including the degree of ineffective erythropoiesis through its suppressive effect on hepcidin production...
2008: Hematology—the Education Program of the American Society of Hematology
Judit Várkonyi, Judit Demeter, Attila Tordai, Hajnalka Andrikovics
The clinical experience of the significant difference in iron metabolism between multiple myeloma and myelodysplasia prompted us to analyse patients according to mutation frequency in the hemochromatosis gene (HFE) known to participate in the regulation of iron metabolism. HFE genotyping results were also evaluated in view of the clinical data in multiple myeloma (MM) patients. 49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP...
December 2006: Annals of Hematology
Judit Várkonyi, Terézia Szabó, Piroska Sebestyén, Attila Tordai, Hajnalka Andrikovics, Géza Kollai, István Karádi
BACKGROUND: Myelodysplastic syndrome (MDS) is an iron overload condition. Copper deficiency itself might induce dysplastic changes and iron overload. The relationship between the iron and copper metabolism is analyzed in MDS patients. METHODS: Copper, iron and ceruloplasmin levels were established, and transferrin saturation determination and HFE mutation analysis were performed in 32 MDS patients. RESULTS: Eleven of 32 MDS patients were copper deficient...
2006: Chemotherapy
Judit Várkonyi, Gábor Tarkovács, István Karádi, Hajnalka Andrikovics, Ferenc Varga, Fatime Varga, Judit Demeter, Attila Tordai
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population. Among the 50 patients examined [26 refractory anemia (RA), 9 refractory anemia with ring sideroblasts (RARS), 2 refractory anemia with excess of blasts (RAEB) and 13 refractory anemia with excess of blasts in transformation (RAEB-t)] there were 24 heterozygotes (20 for H63D and 4 for C282Y), 1 homozygote for H63D and 1 compound heterozygote...
2003: Acta Haematologica
D B Van Wyck
Effective management of early anaemia in the course of chronic renal insufficiency requires the following: (i) implementing an efficient diagnostic strategy to exclude common contributing factors; (ii) initiating epoetin therapy for the majority of patients; for and (iii) ensuring adequate iron supply erythropoiesis. Diagnostic inquiry is warranted whenever the haemoglobin concentration is below the normal range adjusted for age and gender. The most efficient diagnostic approach is to assume erythropoietin deficiency, exclude iron deficiency, and pursue further diagnostic tests only when red-cell indices are abnormal or when leukopenia or thrombocytopenia are also present...
2000: Nephrology, Dialysis, Transplantation
C Klinz
HISTORY AND ADMISSION FINDINGS: A 68-year-old man was admitted because of symptoms of lumbar pain. He was known to have chronic anemia with ring sideroblasts and diabetes melitus and to be in heart failure. Three months before he had been given 7 units of red cell concentrate. On admission the outstanding features were brown discoloration of the skin, absent body hair, tachycardia, hepatomegaly and small testicles. INVESTIGATIONS: He had a normocytic anemia, hyperglycemia and raised transaminases, hypogonadism and vitamin D3 deficiency...
January 29, 1999: Deutsche Medizinische Wochenschrift
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