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Iron overload syndrome

Hiroshi Kawabata
Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by ineffective hematopoiesis in bone marrow and cytopenias in peripheral blood. In patients with MDS, iron overload is frequent due to red blood cell transfusions and ineffective erythropoiesis. Dysplastic erythroblasts in MDS secrete humoral factors such as erythroferrone, which suppress hepatic expression of hepcidin. Hepcidin is the key regulator of systemic iron homeostasis, and suppression of hepcidin expression leads to an increase in iron absorption from the intestines, exacerbating systemic iron overload...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Isabella Menchetti, Yulia Lin, Christine Cserti-Gazdewich, Jenette Goldstein, Calvin Law, Alan Lazarus, Jeannie L Callum
BACKGROUND: Evans syndrome is a rare autoimmune disorder that is defined by the simultaneous or sequential presence of two or more cytopenias without an obvious underlying precipitating cause. Evans syndrome usually follows a chronic relapsing and remitting course and is quite rare, making it difficult to evaluate in clinical studies. CASE REPORT: A 66-year-old male patient with a 17-year history of Evans syndrome presented with fulminant autoimmune hemolytic anemia (AIHA)...
October 6, 2018: Transfusion
Heather A Leitch, Rena Buckstein, Nancy Zhu, Thomas J Nevill, Karen W L Yee, Brian Leber, Mary-Margaret Keating, Eve St Hilaire, Rajat Kumar, Robert Delage, Michelle Geddes, John M Storring, April Shamy, Mohamed Elemary, Richard A Wells
In 2008 the first evidence-based Canadian consensus guideline addressing the diagnosis, monitoring and management of transfusional iron overload in patients with myelodysplastic syndromes (MDS) was published. The Canadian Consortium on MDS, comprised of hematologists from across Canada with a clinical and academic interest in MDS, reconvened to update these guidelines. A literature search was updated in 2017; topics reviewed include mechanisms of iron overload induced cellular damage, evidence for clinical endpoints impacted by iron overload including organ dysfunction, infections, marrow failure, overall survival, acute myeloid leukemia progression, and endpoints around hematopoietic stem-cell transplant...
September 19, 2018: Leukemia Research
Monica Khurana, Donna Edwards, Frederic Rescorla, Caroline Miller, Ying He, Elizabeth Sierra Potchanant, Grzegorz Nalepa
Correct diagnosis of inherited bone marrow failure syndromes is a challenge because of the significant overlap in clinical presentation of these disorders. Establishing right genetic diagnosis is crucial for patients' optimal clinical management and family counseling. A nondysmorphic infant reported here developed severe transfusion-dependent anemia and met clinical criteria for diagnosis of Diamond-Blackfan anemia (DBA). However, whole-exome sequencing demonstrated that the child was a compound heterozygote for a paternally inherited pathogenic truncating variant ( SPTA1 c...
October 2018: Cold Spring Harbor Molecular Case Studies
Carmen Fucile, Francesca Mattioli, Valeria Marini, Massimo Gregori, Aurelio Sonzogni, Antonietta Martelli, Natalia Maximova
To date, in pediatric field, various hematological malignancies are increasingly treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT). Iron overload and systemic siderosis often occur in this particular cohort of patients and are associated with poor prognosis. We describe herein the case of two allo-HSCT patients, on treatment with deferasirox; they showed histopathological elements compatible with venoocclusive disease or vanishing bile duct syndrome in ductopenic evolution before deferasirox started...
2018: Therapeutics and Clinical Risk Management
William C Palmer, Prakash Vishnu, William Sanchez, Bashar Aqel, Doug Riegert-Johnson, Leigh Ann Kenda Seaman, Andrew W Bowman, Candido E Rivera
Iron overload disorders lead to excess iron deposition in the body, which can occur as a result of genetic or secondary causes. Genetic iron overload, referred to as hereditary hemochromatosis, may present as a common autosomal recessive mutation or as one of several uncommon mutations. Secondary iron overload may result from frequent blood transfusions, exogenous iron intake, or certain hematological diseases such as dyserythropoietic syndrome or chronic hemolytic anemia. Iron overload may be asymptomatic, or may present with significant diseases of the liver, heart, endocrine glands, joints, or other organs...
September 17, 2018: Journal of General Internal Medicine
Renata Formánková, Jan Starý
Allogeneic hematopoietic stem cell transplantation (HSCT) is currently successfully used in the treatment of many non-malignant hematopoietic disorders, including acquired and inherited bone marrow failure. HSCT from a HLA-identical sibling donor (MSD) is the treatment of choice, better results are achieved using bone marrow graft. Conditioning regimens and graft-versus-host disease prophylaxis are different in dependence on the underlying disease, age and clinical condition of the patient, type of donor and stem cell graft...
2018: Vnitr̆ní Lékar̆ství
Pierre Brissot, Marie-Bérengère Troadec, Olivier Loréal, Eolia Brissot
Iron overload pathophysiology has benefited from significant advances in the knowledge of iron metabolism and in molecular genetics. As a consequence, iron overload nosology has been revisited. The hematologist may be confronted to a number of iron overload syndromes, from genetic or acquired origin. Hemochromatoses, mostly but not exclusively related to the HFE gene, correspond to systemic iron overload of genetic origin in which iron excess is the consequence of hepcidin deficiency, hepcidin being the hormone regulating negatively plasma iron...
August 15, 2018: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
Andrea Zivot, Jeffrey M Lipton, Anupama Narla, Lionel Blanc
Erythropoiesis is a tightly-regulated and complex process originating in the bone marrow from a multipotent stem cell and terminating in a mature, enucleated erythrocyte.Altered red cell production can result from the direct impairment of medullary erythropoiesis, as seen in the thalassemia syndromes, inherited bone marrow failure as well as in the anemia of chronic disease. Alternatively, in disorders such as sickle cell disease (SCD) as well as enzymopathies and membrane defects, medullary erythropoiesis is not, or only minimally, directly impaired...
March 23, 2018: Molecular Medicine
Liangying Zhong, Xin Gan, Lingling Xu, Chujia Liang, Yingjun Xie, Wenbin Lin, Peisong Chen, Min Liu
BACKGROUND: Thalassemias (TM) are the most common autosomal recessive disorders in Southeast Asian countries. Both α- and β-thalassemia lead to a decrease or absence of globin chains. The most serious of the thalassemia syndromes is thalassemia major which is characterized by a transfusion dependent anemia and subsequent iron overload caused by repeated blood transfusions. It is preventive by genotyping the parents. A better understanding of the laboratory data will help provide an accurate diagnosis of thalassemia major, and prevention and controlling programs in routine laboratories...
August 17, 2018: BMC Medical Genetics
Matthew T Goodus, Andrew D Sauerbeck, Phillip G Popovich, Richard S Bruno, Dana M McTigue
Spinal cord injury (SCI) disrupts autonomic regulation of visceral organs. As a result, a leading cause of mortality in the SCI population is metabolic dysfunction, and an organ central to metabolic control is the liver. Our recent work showed that rodent SCI promotes Kupffer cell (hepatic macrophage) activation, pro-inflammatory cytokine expression, and liver steatosis. These are symptoms of nonalcoholic steatohepatitis (NASH), the hepatic manifestation of metabolic syndrome, and these pre-clinical data replicate aspects of post-SCI human metabolic dysfunction...
September 27, 2018: Journal of Neurotrauma
Patricia M Fortin, Sally Hopewell, Lise J Estcourt
BACKGROUND: Globally, sickle cell disease (SCD) is one of the commonest severe monogenic disorders, due to the inheritance of two abnormal haemoglobin (beta globin) genes. SCD can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Red blood cell (RBC) transfusions are used to treat complications of SCD, e.g. acute chest syndrome (ACS) (this often involves a single transfusion episode), or they can be part of a regular long-term transfusion programme to prevent SCD complications...
August 1, 2018: Cochrane Database of Systematic Reviews
Nour M Moukalled, Fuad A El Rassi, Sally N Temraz, Ali T Taher
Myelodysplastic syndromes (MDS) encompass a heterogeneous group of clonal hematopoietic stem cell disorders characterized by a broad clinical spectrum related to ineffective hematopoiesis leading to unilineage or multilineage cytopenias, with a high propensity for transformation to acute myeloid leukemia. Iron overload has been recently identified as one of the important conditions complicating the management of these diverse disorders. The accumulation of iron is mainly related to chronic transfusions; however, evidence suggests a possible role for ineffective erythropoiesis and increased intestinal absorption of iron, related to altered hepcidin and growth differentiation factor-15 levels in the development of hemosiderosis in patients with MDS...
June 15, 2018: Cancer
Antonis Kattamis, Yesim Aydinok, Ali Taher
Effective iron chelation therapy is an important part of treatment in patients with transfusion-dependent thalassaemia and lower-risk myelodysplastic syndromes (MDS). Key strategies for optimising iron chelation therapy include ensuring good adherence and preventing and managing adverse events (AEs). Good adherence to iron chelation therapy with deferoxamine and deferasirox has been linked to improved survival and/or reductions in complications related to iron overload; however, maintaining good adherence to iron chelators can be challenging...
September 2018: European Journal of Haematology
Xin Jin, Xiaoyuan He, Xiaoli Cao, Ping Xu, Yi Xing, Songnan Sui, Luqiao Wang, Juanxia Meng, Wenyi Lu, Rui Cui, Hongyan Ni, Mingfeng Zhao
There is increasing clinical evidence to suggest a suppressive effect on hematopoiesis in myelodysplastic syndrome patients with iron overload. However, how iron overload influences hematopoiesis in myelodysplastic syndrome (MDS) remains unknown. Here, the RUNX1S291fs -transduced bone marrow mononuclear cells were yielded and transplanted into lethally irradiated recipient mice together with radioprotective bone marrow cells to generate MDS mice. Eight weeks post transplantation, the recipient mice received an intraperitoneal injection of 0...
October 2018: Haematologica
Jamile M Shammo, Rami S Komrokji
Patients with myelodysplastic syndromes (MDS) are at increased risk of iron overload due to ineffective erythropoiesis and chronic transfusion therapy. The clinical consequences of iron overload include cardiac and/or hepatic failure, endocrinopathies, and infection risk. Areas covered: Iron chelation therapy (ICT) can help remove excess iron and ultimately reduce the clinical consequences of iron overload. The authors reviewed recent (last five years) English-language articles from PubMed on the topic of iron overload-related complications and the use of ICT (primarily deferasirox) to improve outcomes in patients with MDS...
July 2018: Expert Review of Hematology
Kamel Laribi, Delphine Bolle, Mustapha Alani, Habib Ghnaya, Saga Le Bourdelles, Anne Besançon, Jonathan Farhi, Nathalie Denizon, Alix Baugier de Materre
Iron overload has been associated with poor overall survival in patients with higher-risk myelodysplastic syndromes after allogeneic hematopoietic stem cell transplantation, but has not been investigated in higher-risk MDS patients treated with hypomethylating agents. We evaluated the prognostic value of serum ferritin levels at diagnosis in a retrospective analysis of 48 patients with an intermediate 2 or high-risk International Prognostic Scoring System (IPSS) score treated with azacytidine. overall survival probability at 1 and 2 years was 58% and 42%, respectively...
September 2018: Experimental Hematology
Yasuaki Tatsumi, Ayako Kato, Koichi Kato, Hisao Hayashi
Iron and copper are trace elements essential for health, and iron metabolism is tightly regulated by cuproproteins. Clarification of the interactions between iron and copper may provide a better understanding of the pathophysiology and treatment strategy for hemochromatosis, Wilson disease, and related disorders. The hepcidin/ferroportin system was used to classify genetic iron overload syndromes in Japan, and ceruloplasmin and ATP7B were introduced for subtyping Wilson disease into the severe hepatic and classical forms...
August 2018: Hepatology Research: the Official Journal of the Japan Society of Hepatology
Joel Marmur, Soheir Beshara, Gösta Eggertsen, Liselotte Onelöv, Nils Albiin, Olof Danielsson, Rolf Hultcrantz, Per Stål
BACKGROUND: One-third of patients with non-alcoholic fatty liver disease (NAFLD) develop dysmetabolic iron overload syndrome (DIOS), the pathogenesis of which is unknown. Altered production of the iron-regulatory peptide hepcidin has been reported in NAFLD, but it is unclear if this is related to iron accumulation, lipid status or steatohepatitis. METHODS: Eighty-four patients with liver disease, 54 of which had iron overload, underwent liver biopsy (n = 66) and/or magnetic resonance imaging (n = 35) for liver iron content determination...
June 5, 2018: BMC Gastroenterology
James C Barton, Jackson Clayborn Barton, Ronald T Acton
BACKGROUND: We sought to determine associations with insulin resistance (IR) and metabolic syndrome (MetS) in African Americans. METHODS: We studied African American adults without diabetes in a postscreening examination. Participants included Cases: transferrin saturation (TS) >50% and serum ferritin (SF) >300 μg/L (M), and TS >45% and SF >200 μg/L (F), regardless of HFE genotype; and Controls: TS/SF 25th to 75th percentiles and HFE wt/wt (wild type)...
August 2018: Metabolic Syndrome and related Disorders
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