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Your search term(s) "hemochromatosis" returned 18 results.

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Anemia. Washington, DC: National Women’s Health Information Center. 2008. 8 p.

This fact sheet answers common questions about anemia, a condition defined as fewer than the normal number of red blood cells in the blood or when the red blood cells do not carry enough hemoglobin. Hemoglobin is a protein that gives the red color to blood and is responsible for carrying oxygen from the lungs to all parts of the body. The fact sheet covers the types and causes of anemia, iron-deficiency anemia, vitamin-deficiency anemia, anemias caused by underlying diseases, anemias caused by inherited blood disease, aplastic anemia, the signs and symptoms of anemia, diagnostic tests including a complete blood count (CBC) used to confirm the presence of anemia, treatment options, complications associated with untreated anemia, steps that can help prevent anemia, the recommended amounts of daily iron, the iron needs of women who are pregnant, how birth control pills affect one’s risk for anemia, problems with anemia in people following a vegetarian diet, and the condition of iron overload, also called hemochromatosis. Readers are referred to seven resource organizations for more information. The telephone numbers and website addresses of the organizations are provided. 1 table.

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Metabolic Liver Disease. IN: Hauser, S., ed. Mayo Clinic Gastroenterology and Hepatology Board Review. 3rd ed. New York, NY: Informa Healthcare USA. 2008. pp 363-376.

This chapter on metabolic liver disease is from a comprehensive textbook that provides an in-depth examination of essential knowledge in gastroenterology, hepatology, and the related areas of pathology, endoscopy, nutrition, and radiology. The author notes that metabolic liver diseases include inborn errors of carbohydrate metabolism, protein, metabolism, lipid metabolism, bile acid metabolism, copper metabolism, and iron metabolism. The chapter focuses on hereditary hemochromatosis, Wilson’s disease, and alpha-1 antitrypsin (AAT) deficiency because they are the metabolic liver diseases most gastroenterologists are likely to encounter. Hereditary hemochromatosis is an autosomal recessive disorder associated with increased intestinal absorption of iron and the deposition of excessive amounts of iron in the liver, pancreas, and other organs. Treatment for hereditary hemochromatosis is usually reserved for patients with evidence of iron overload. Therapeutic phlebotomy is the preferred treatment because it is simple, effective, and relatively inexpensive. Wilson’s disease is an autosomal recessive disorder characterized by abnormal intrahepatic copper metabolism and deposition of excess copper in the liver, brain, cornea, and other organs. Penicillamine has been used as first-line treatment for Wilson’s disease. Because up to 20 percent of patients on this drug experience toxicity, it is recommended that therapy start with trientine. AAT deficiency is an autosomal codominant disorder characterized by lung and liver injury. No effective medical treatment is available for the liver manifestations of AAT deficiency. However, liver transplantation can be a definitive treatment. Patient care diagnostic algorithms are included. The chapter includes full-color illustrations. 6 figures. 2 tables. 13 references.

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Patient with Diabetes, Hepatitis C Virus Infection, and Hemochromatosis Gene Mutation. Clinical Diabetes. 26(4): 174-176. Fall 2008.

This article presents the case study of a 51-year-old African American man who presented with fatigue, polyuria, and polydipsia. He had been diagnosed with type 1 diabetes 1 year before and had experienced four different hospitalizations with hyperglycemic crises in that year. His adherence to a diabetes treatment, including basal and premeal insulin, was poor. After his hyperglycemia was stabilized in the hospital, additional testing diagnosed hepatitis C virus (HCV) infection and hereditary hemochromatosis (HH). During the hospital stay, his condition improved, and his blood glucose significantly decreased after volume resuscitation and subcutaneous insulin therapy. The authors comment on this case and the patient’s comorbidities. Because diabetes is highly prevalent in patients with HCV and vice versa, HCV infection should be considered in patients with diabetes who have abnormal serum transaminases. Iron overload manifested by elevated transferrin saturation and ferritin concentration in patients with diabetes may occur because of HFE gene mutation. Therefore, testing for HH may be indicated. Other causes of iron overload may need to be considered. 21 references.

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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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Facts About Hemochromatosis. Bethesda, MD: NHLBI Health Information Center. 2006. 8 p.

This fact sheet from the National Heart, Lung, and Blood Institute (NHLBI) reviews basic facts about hemochromatosis, a disease in which too much iron builds up in the body. This extra iron can be toxic to the body and cause damage to organs such as the liver, heart, and pancreas. The fact sheet reviews the symptoms of hemochromatosis; the effects of iron overload on the body; the variation in severity of hemochromatosis; other names for hemochromatosis; prognosis; the cause of primary and secondary hemochromatosis; risk factors for these conditions; the signs and symptoms of hemochromatosis; diagnostic tests that may be used to confirm the presence of hemochromatosis; and treatment options, including therapeutic phlebotomy, iron chelation therapy, changes in the diet, and treatments for complications that may arise. Hemochromatosis is most often a genetic disease caused by inheriting a pair of abnormal HFE genes. Many of the signs and symptoms of hemochromatosis are similar to the signs and symptoms of other, more common, diseases. Some early-stage signs and symptoms are fatigue, joint pain, and weakness. Later-stage symptoms include arthritis, heart problems, and liver problems. Hemochromatosis is diagnosed based on the patient’s medical and family history, current signs and symptoms, and the levels of transferrin saturation (TS) and serum ferritin in the blood. Frequent therapeutic phlebotomy, which is repeated blood removal, may be needed at first to get the iron levels back to normal in the patient’s body. The treatment may then be continued at reduced frequency, to maintain normal iron levels. If hemochromatosis is found and treated early, before organ damage occurs, complications can be prevented and a normal lifespan is possible. A final section encourages readers to educate themselves about hemochromatosis and stay aware of their ongoing medical needs. Readers are referred to other resources online, as well as to clinical trials that may be appropriate.

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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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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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