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Your search term(s) "hemochromatosis" returned 47 results.

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Hemochromatosis. Bethesda, MD: National Digestive Diseases Information Clearinghouse. 2007. 6 p.

Hemochromatosis, the most common form of iron overload disease, is an inherited disorder that causes the body to absorb and store too much iron. The extra iron builds up in the patient’s organs and damages them. This fact sheet reviews the causes (etiology), risk factors, symptoms, diagnosis, treatment, screening, and research related to hemochromatosis. The primary cause is genetic; however, there is a juvenile form and a neonatal form of the disease that are not caused by the genetic defect. Men are about five times more likely to be diagnosed with hemochromatosis than women. Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. However, many people have no symptoms when they are diagnosed. Blood tests can determine whether the amount of iron stored in the body is too high. Treatment is simple, inexpensive, and safe. The first step is to rid the body of excess iron through phlebotomy (removing blood); once iron levels return to normal, maintenance therapy, which involves giving a pint of blood every 1 to 4 months for life, begins. Screening for hemochromatosis is not a routine part of medical care or checkups. Current research in hemochromatosis is concentrated in four areas: genetics, pathogenesis, epidemiology, and screening and testing. The fact sheet concludes with the contact information for four resource organizations and a brief summary of the activities of the National Digestive Diseases Information Clearinghouse. 1 figure.

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Pathogenesis. IN: Scobie, I.N. Atlas of Diabetes Mellitus. 3rd ed. New York, NY: Informa Healthcare USA. 2007. pp 9-32.

This chapter about pathogenesis is from an atlas of diabetes mellitus that offers text and pictures to familiarize clinicians with the most current information about diabetes, its diagnosis, and its treatment. The volume portrays the wide and varied expressions of diabetes and its complications as an aid to their more ready recognition in clinical practice. This chapter discusses type 1 diabetes; type 2 diabetes; other types of diabetes, including maturity-onset diabetes of the young (MODY); the obesity epidemic; and prevention of the different types of diabetes. The chapter offers full-color photographs of specific presentations of diabetes in conjunction with other diseases and genetic disorders, including Cushing’s syndrome, Prader-Willi syndrome, obesity, acromegaly, Addison’s disease, hemochromatosis, Klinefelter’s syndrome, Turner’s syndrome, myotonic dystrophy, and Rabson-Mendenhall syndrome. Additional illustrations present the biochemical consequences of insulin deficiency, mechanisms of glucose production and stimulation, histology of the pancreas and beta cells, and pathology of the pancreas. 44 figures. 20 references.

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Current Approaches to the Management of Hemochromatosis. IN: Hematology 2006. Washington, DC: American Society of Hematology. 2006. pp. 36-41.

This article reviews current approaches to the management of hemochromatosis, a term that encompasses at least four types of genetic iron overload conditions, most of them recently distinguished from one another as a result of the identification of a series of genes related to iron metabolism. At least three of these entities—HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis-involve systemic hepcidin deficiency as a key pathogenetic factor. Major advances in the management of hemochromatosis influence the diagnostic approach to the disease, with the development of an overall noninvasive strategy, mainly based on clinical; biological, iron parameters and genetic testing; and imaging, especially magnetic resonance imaging, data. Treatment options are dominated by traditional phlebotomy, also called venesection. However, some new treatment approaches, based on the improved pathophysiological understanding of these diseases and the progress in iron chelation therapy, are emerging. The authors conclude that preventive therapy, focused on screening of family members, remains a key part of the management of hemochromatosis. 2 figures. 43 references.

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Hemochromatosis: Genetics and Pathophysiology. Annual Review of Medicine. 57: 331-347. February 2006.

This article reviews the different genetic disorders that can result in the accumulation of excess iron in the body, called hemochromatosis. Hemochromatosis can damage various organ systems, particularly the liver, the pancreas and other endocrine organs, and the heart. The causes of hereditary hemochromatosis include defects in genes encoding HFE, transferrin receptor 2, ferroportin, hepcidin, and hemojuvelin. The article begins with a discussion of the overall pathogenesis of primary hemochromatosis and the population genetics of hemochromatosis. Hepcidin, with its cognate receptor, ferroportin, has emerged as a central regulator of iron homeostasis; all of the known causes of hemochromatosis appear to prevent this system from functioning normally. The most common form of primary hemochromatosis is due to C282Y mutation of the HFE gene, a mutation which is most prevalent among people of Northern European descent. 1 figure. 1 table. 104 references.

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New Advances in Iron Chelation Therapy. IN: Hematology 2006. Washington, DC: American Society of Hematology. 2006. pp. 42-47.

This article reviews new advances in iron chelation therapy, a technique used for the treatment of thalassemia major, sickle cell disease, and other hematologic disorders for which regular red cell transfusions are required either to correct severe anemia or to prevent major complications of the underlying disease. The author begins with a discussion of deferoxamine, a drug that requires prolonged parenteral infusion to achieve negative iron balance. The author then discusses orally active chelators that offer the promise of easier administration and better compliance. The availability of more than one iron chelator opens up the possibility of combination therapy to target iron in specific organs and to enhance overall iron excretion. For patients beginning iron chelation therapy and those with good control of iron stores and preservation of normal cardiac function, treatment with deferasirox is appropriate, but regular assessment of the iron burden is essential to achieve the correct dose. The author calls for research studies, employing new technologies to measure tissue iron, to determine whether the new chelators will be as safe and effective as deferoxamine. 3 tables. 27 references.

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Hepcidin and its Role in Regulating Systemic Iron Metabolism. IN: Hematology 2006. Washington, DC: American Society of Hematology. 2006. pp. 29-35.

This article considers hepcidin and its role in regulating systemic iron metabolism. The author explains how maintenance of stable extracellular iron concentrations requires the coordinate regulation of iron transport into plasma from dietary sources in the duodenum, from recycled senescent red cells in macrophages and from storage in hepatocytes. Hepcidin is a 25-amino acid disulfide-rich peptide synthesized in the liver that acts as a systemic iron-regulatory hormone by regulating iron transport from iron-exporting tissues into plasma. Hepcidin inhibits the cellular loss of iron by binding to and inducing the degradation of ferroportin, the sole iron exporter in iron-transporting cells. In turn, hepcidin synthesis is increased by iron loading and decreased by anemia and hypoxia. Additionally, hepcidin synthesis is greatly increased during inflammation, trapping iron in macrophages, decreasing plasma iron concentrations and causing iron-restricted erythropoiesis characteristic of anemia of inflammation (anemia of chronic disease). Recent studies indicate that hepcidin deficiency underlies most known forms of hereditary hemochromatosis. This implies that hemochromatosis genes encode molecules that regulate hepcidin synthesis. The author concludes with a discussion of the possible use of a hepcidin assay for the diagnosis of iron disorders and the monitoring of their treatments. In addition, the development of hepcidin agonists and antagonists may provide useful therapeutics for the treatment of iron disorders. 1 table. 45 references.

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Hereditary Hemochromatosis and Porphyria. Canadian Porphyria Foundation National Newsletter. p. 3, 6. Summer 2006.

This article, from a newsletter for people with porphyria, considers the connection between hereditary hemochromatosis and porphyria. Hereditary hemochromatosis is a disorder that results in the deposition of iron in the cells of the body, causing tissue damage and dysfunction in the organ where it is deposited. The author reviews the pathology, symptoms, genetics, diagnosis, and treatment of hereditary hemochromatosis. The author then reminds readers that porphyria cutanea tarda (PCT) is caused by reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver, which then leads to the accumulation of uroporphyrins and a variety of skin manifestations. Acquired PCT, also called sporadic PCT, is associated with alcohol abuse, estrogens, liver disease, and iron overload. Iron often triggers the clinical manifestations of PCT by inactivating URO-D. Sixty percent or more of people with PCT have increased iron stores; many of these have hereditary hemochromatosis. A brief glossary of terms concludes the article.

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Hereditary Iron Overload: Update on Pathophysiology, Diagnosis, and Treatment. American Journal of Hematology. 81(3): 202-209. March 2006.

This article describes hereditary iron overload, called hemochromatosis, a very common genetic defect in the Caucasian population. Hemochromatosis is characterized by progressive tissue iron overload which leads to irreversible organ damage if it is not treated. Four types of inherited iron overload have been recognized: type 1, the most common form with an autosomal recessive inheritance, is associated with mutations in the HFE gene on chromosome 6; type 2 (juvenile hemochromatosis) is an autosomal recessive disorder with causative mutations; type 3 also has an autosomal recessive inheritance; and type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene on chromosome 2. The author focuses on the pathophysiology, diagnosis, and treatment of each of these types of hereditary hemochromatosis. The aim of population-based screening for hemochromatosis is to identify those individuals requiring treatment before the development of complications of iron overload. However, there is disagreement on which test—biochemical or genetic—should be used for general screening and which population should be screened. For treatment, therapeutic phlebotomy is the safest, most effective, and most economical treatment for hereditary hemochromatosis. Patients who start phlebotomy before the onset of irreversible organ damage have a normal life expectancy. 1 table. 84 references.

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Hypochromic Anaemias and Iron Overload. IN: Hoffbrand, A.V.; Moss, P.A.H.; Pettit, J.E. Essential Haematology. 5th ed. Williston, VT: Blackwell Publishing Inc. 2006. pp. 28-43.

This chapter on hypochromic anemias and iron overload is from a hematology textbook that offers a comprehensive look at the biochemical, physiological, and immunological processes involved in normal blood cell formation and function and the disturbances that may occur in different diseases. The authors discuss the nutritional and metabolic aspects of iron, iron deficiency, anemia associated with chronic disorders, sideroblastic anemia, and iron overload conditions. Specific topics include body iron distribution and transport, the regulation of ferritin and transferrin receptor 1 synthesis, hepcidin, dietary iron, iron absorption and iron requirements, the causes and clinical features of iron deficiency, diagnostic tests used to determine the cause of iron deficiency, oral and parenteral iron used to treat iron deficiency, and hemochromatosis. The chapter includes full-color illustrations and photographs. 15 figures. 10 tables. 18 references.

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Metabolic Liver Disease. IN: Lichtenstein, G.; Reddy, K.R.; Faust, T., eds. Clinician’s Guide to Liver Disease. Thorofare, NJ: Slack Incorporated. 2006. pp 139-160.

This chapter about metabolic liver disease is from a user-friendly reference book that provides gastroenterologists with an overview of the management of acute and chronic liver disease. The author notes that the metabolic liver diseases comprise a varied group of disorders, with differing modes of onset and clinical presentations. Most of these disorders are seen primarily in children. However, improved management has led to a greater longevity in those affected, with the patients making a transition to adult care with a gastroenterologist. The author’s discussion focuses on some of the more important disorders encountered in adult clinical practice, namely derangements of metal metabolism and the relatively uncommon disorder of alpha-1 antitrypsin deficiency. Disorders of metal metabolism covered include iron overload syndromes, hereditary hemochromatosis, Wilson disease, and Menke’s disease. The chapter includes patient care algorithms for Wilson disease and hereditary hemochromatosis. 2 figures. 1 table. 37 references.

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