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Iron overload syndrome

Ali T Taher, Raffaella Origa, Silverio Perrotta, Alexandra Kouraklis, Giovan Battista Ruffo, Antonis Kattamis, Ai-Sim Goh, Vicky Huang, Aiesha Zia, Raquel Merino Herranz, John B Porter
BACKGROUND: Adherence to long-term chelation therapy in transfusion-dependent patients is critical to prevent iron overload-related complications. Once-daily deferasirox dispersible tablets (DT) have proven long-term efficacy and safety in patients ≥2 years old with chronic transfusional iron overload. However, barriers to optimal adherence remain, including palatability, preparation time, and requirements for fasting state. A new film-coated tablet (FCT) formulation was developed, swallowed once daily (whole/crushed) with/without a light meal...
November 19, 2018: Health and Quality of Life Outcomes
Houda Hamdi-Rozé, Zeineb Ben Ali, Martine Ropert, Lénaïck Detivaud, Samira Aggoune, Dominique Simon, Gilles Pelletier, Yves Deugnier, Véronique David, Edouard Bardou-Jacquet
Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload diagnosed during childhood. Our study describes clinical features and results of genetic testing for a group of patients initially referred for a hepcidino-deficiency syndrome and for whom HJV hemochromatosis was finally diagnosed. 662 patients with iron overload and high serum transferrin saturation were tested, and five genes (HFE, HJV, HAMP, TFR2, SLC40A1) were sequenced...
October 22, 2018: Blood Cells, Molecules & Diseases
Katia Menacho, Sara Ramirez, Pedro Segura, Sabrina Nordin, Amna Abdel-Gadir, Violeta Illatopa, Anish Bhuva, Giulia Benedetti, Redha Boubertakh, Pedro Abad, Bertha Rodriguez, Felix Medina, Thomas Treibel, Mark Westwood, Juliano Fernandes, John Malcolm Walker, Harold Litt, James C Moon
Background Advanced cardiac imaging permits optimal targeting of cardiac treatment but needs to be faster, cheaper, and easier for global delivery. We aimed to pilot rapid cardiac magnetic resonance ( CMR ) with contrast in a developing nation, embedding it within clinical care along with training and mentoring. Methods and Results A cross-sectional study of CMR delivery and clinical impact assessment performed 2016-2017 in an upper middle-income country. An International partnership (clinicians in Peru and collaborators from the United Kingdom, United States, Brazil, and Colombia) developed and tested a 15-minute CMR protocol in the United Kingdom, for cardiac volumes, function and scar, and delivered it with reporting combined with training, education and mentoring in 2 centers in the capital city, Lima, Peru, 100 patients referred by local doctors from 6 centers...
September 4, 2018: Journal of the American Heart Association
Nesma Ahmed Safwat, Mahmoud Adel Kenny
BACKGROUND: Soluble forms of RAGE (sRAGE) have been found circulating in plasma and tissues. Evidence is accruing in human subjects linking levels of sRAGE to oxidative stress in many disorders. Because sickle cell disease (SCD) is a state of oxidative stress, we tested the hypothesis that circulating sRAGE levels may be involved in the vascular pathology of SCD. OBJECTIVES: To determine the sRAGE levels in children and adolescents with SCD and investigate their association with markers of hemolysis, iron overload, and SCD-related organ complications...
October 26, 2018: Pediatric Research
Fernando Bessone, María Valeria Razori, Marcelo G Roma
Nonalcoholic fatty liver disease (NAFLD) is a main hepatic manifestation of metabolic syndrome. It represents a wide spectrum of histopathological abnormalities ranging from simple steatosis to nonalcoholic steatohepatitis (NASH) with or without fibrosis and, eventually, cirrhosis and hepatocellular carcinoma. While hepatic simple steatosis seems to be a rather benign manifestation of hepatic triglyceride accumulation, the buildup of highly toxic free fatty acids associated with insulin resistance-induced massive free fatty acid mobilization from adipose tissue and the increased de novo hepatic fatty acid synthesis from glucose acts as the "first hit" for NAFLD development...
October 20, 2018: Cellular and Molecular Life Sciences: CMLS
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...
November 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...
December 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
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