41. Iron Disorders Institute Nonprofit National Voluntary Health Agency that provides information about disorders of iron such as hemochromatosis. http://www.irondisorders.org/

Home FAQ Glossary of Terms Enter Keyword DISORDERS PUBLICATIONS HELPFUL FORMS DONATE ... ABOUT IDI OHIO DOES IT AGAIN Coming Soon! ARAN GORDON Disorders Institute Chairman of the Board completes the 2005 Marathon des Sables Read The Full Story New Members Renew Membership Coming Soon User ID: Password: The Iron Disorders Institute recommends shopping in our newly designed iron store. As a shopper, you will not only receive reliable information, but you will be helping an important cause. Start Supporting Today Find a physician Iron Tests! Online Discussion Group ... FDA Variances List OUR MATERIALS are reviewed by members of our Scientific Advisory Board. Publications, Recommendations and Position Papers issued by our Scientific Advisory Board From the executive director: Welcome to our website! We hope that you will find answers to your questions about iron in the Disorders tab. If already diagnosed with an iron disorder, use our publications helpful forms , and Iron Store . We invite you to talk with us, become involved, and

42. EMedicine - Hemochromatosis : Article By Sandor Joffe, MD hemochromatosis hemochromatosis is characterized by a progressive increase in total body iron stores with abnormal iron deposition in multiple organs. http://www.emedicine.com/RADIO/topic323.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Radiology Gastrointestinal Hemochromatosis Last Updated: March 11, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: hereditary hemochromatosis, primary hemochromatosis, secondary hemochromatosis, idiopathic hemochromatosis, hemosiderosis AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Differentials Cat Scan ... Bibliography Author: Sandor Joffe, MD , Section Chief of Abdominal Imaging, Department of Radiology, Beth Israel Medical Center Sandor Joffe, MD, is a member of the following medical societies: American College of Radiology American Roentgen Ray Society , and Radiological Society of North America Editor(s): Neela Lamki, MD , Professor, Department of Radiology, Baylor College of Medicine at Houston; Director, Gastrointestinal and Body Magnetic Resonance Imaging, Department of Radiology, Ben Taub General Hospital; Bernard D Coombs, MBChB, PhD

43. Iron Overload Disorder Support Forums Online: News Support group for those affected by hemochromatosis http://www.iodforum.net

Iron Overload Disorder Support Forums Online Main Menu Upload FAQ Calendar Newsletter ... Hemochromatosis Facts Welcome Username: Password: Remember me Signup Forgot password? Online Guests: 3, Members: ... most ever online: : 78 (members: 0, guests: 78) on 05 Jul : 17:52 Members: 212 Newest member: maryf Chatbox You must be logged in to post comments on this site - please either log in or if you are not registered click here to signup 08 Sep : 00:24 Not sure Rusty - I will check into it. Rusty 07 Sep : 22:59 Ironman Is there any way of retrieving an instant mesenger message that one may have recieved and lost? Rusty Rusty 03 Sep : 07:57 I see some more changes to the site Mike. Looks good. Rusty 03 Sep : 02:40 Scottish: Thanks for asking! Your level is high, should be in the 20's to 50's. Gout, high pressure and other symptoms are all signs of HH. Take a look at our Hemochromatosis Facts for some more information on the symptoms. Welcome aboard! scottish 03 Sep : 01:32 Hello, could you please tell me if ferritin level of 900 is high, I am currently having test for Haemochromatosis. I am also being treated for high blood pressure and gout. Are these related to Haemoch. could the gout be joint pain related to Haemoch. Im trying to learn as much as possible as family memebers have had serious liver problelms. Thanking you. 30 Aug : 04:12 Need info on relation between crit and ferritin level, does one corrispond to the other?

44. Hemochromatosis Education & Research UW hemochromatosis education and research site for patients and providers about HHC or iron overload disease including screening tests, genetics and http://www.uwgi.org/hemochromatosis/flash/default.htm

45. Hemochromatosis Hereditary hemochromatosis, a condition in which excess (and ultimately toxic) levels of iron slowly accumulate in various organs, is one of the most common http://healthlink.mcw.edu/article/974757337.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Arthritis Diabetes Cardiac/Heart Liver By keywords: phlebotomy iron loading iron overload Receive Health Link via email! Subscribe now >> Hemochromatosis Hemochromatosis is a condition in which the body accumulates excess amounts of iron. Serious and sometimes fatal health problems may result from the excess iron that accumulates in the body as a result of this genetic disorder. The excess iron slowly builds to toxic levels in tissues of major organs such as the liver, heart, brain, pancreas, lungs, and synovium (joints). These overburdened organs cease to function properly and eventually become diseased. Hereditary hemochromatosis (HHC) is one of the most common genetic diseases in humans, but it can be undiagnosed or misdiagnosed. Undiagnosed and untreated HHC can develop into diseases such as diabetes, heart trouble, arthritis, cirrhosis of the liver, neurological problems, depression, impotence, infertility, and liver cancer. Iron build up in those with HHC is slow, usually taking years to build to destructive levels. HHC/Iron overload generally manifests in a male's early thirties and is diagnosed in a male's mid to late fifties. For this reason HHC has acquired the mistaken identity of an older male's disease. HHC can be present in females, adolescents and possibly in children.

46. Iron Overload And Hemochromatosis Hereditary hemochromatosis is one of the most common genetic diseases in humans, but many people have never heard of it. http://healthlink.mcw.edu/article/1025279068.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Genetics Public Health By keywords: hemochromatosis Receive Health Link via email! Subscribe now >> Iron Overload and Hemochromatosis Hereditary hemochromatosis is one of the most common genetic diseases in humans, but many people have never heard of it. In the United States, as many as one million people have evidence of the disorder, and up to one in every ten people may carry the gene for it. In people who have hemochromatosis, the body accumulates excess amounts of iron. This can result in serious and sometimes fatal health problems. Some diseases associated with hemochromatosis are arthritis, cirrhosis of the liver, diabetes, heart failure and liver cancer. Signs and Symptoms Early symptoms of hemochromatosis are nonspecific and might include fatigue, heart palpitations, joint pain, non-specific stomach pain, impotence and loss of menstrual periods. Even without other symptoms, people with hemochromatosis may have abnormal liver function test results. Symptoms – which reflect the tissue and organ damage that result from the disease – usually appear in middle age, although some people may develop problems earlier. Later disease symptoms include gray or bronze coloration to the skin, liver cirrhosis, liver cancer, diabetes, hypopituitarism, decreased pituitary or gonadal function, heart disease or heart failure, joint disease, chronic abdominal pain, severe fatigue and certain infections.

47. Hemochromatosis Diagnosis: Test To Diagnose - Iron Overload Diseases Assn. hemochromatosis diagnosis How to find out if you have hemochromatosis or other related iron overload disorders. Visit Iron Overload Diseases Assn. online http://www.ironoverload.org/diagnosis.html

Contact Us What's Happening - Association News 16 Facts You Should Know 20th Annual Symposium - June 1 2002 ... Objections to Liver Biopsy Diagnosis - How Do You Find Out To diagnose hemochromatosis is an easy affair. Basically there are three tests that confirm an iron overload. First there is Transferrin Saturation (TS) or as it is called in some labs Percentage of Saturation: Test # 1 After a 12 hour fast, measure Total Iron Binding Capacity (TIBC) and the Serum Iron (SI). To achieve the percentage of Saturation you divide the TIBC into SI.. Serum Iron SI - = Yields Transferrin Saturation (TS) Total Iron Binding TIBC or in some labs Percentage of Saturation Capacity Safe range = 12-44% Any values above this range must be considered diagnostic for hemochromatosis and should cause immediate protocol treatment. Any values far below this range may be a sign of bleeding ulcers, chronic infection or cancer. Physicians should look for the cause of anemia.

48. THE MERCK MANUAL, Sec. 11, Ch. 128, Iron Overload BR the term hemochromatosis has been applied (see Table 1281). hemochromatosis, an HLA-linked genetic Fe overload disorder, must be differentiated from http://www.merck.com/mrkshared/mmanual/section11/chapter128/128a.jsp

49. Effects Of Hemochromatosis A brief overview of the causes and consequences of iron overload. http://sickle.bwh.harvard.edu/hemochromatosis.html

revised February 4, 1999 Effects of Iron Overload Hereditary Hemochromatosis Total body iron overload occurs most often due either to hereditary hemochromatosis or to repeated transfusions in patients with severe anemia. Hereditary hemochromatosis is the more common of the two by far. Hereditary haemochromatosis reflects a fractional increase in dietary iron absorption (Cox and Peters, 1978) (Cox and Peters, 1980) (Lynch et al., 1989). Tissue iron reaches dangerous levels after thirty or forty years. The gene responsible for hereditary haemochromatosis, HFE, resides on chromosome 6. Discovered in 1996, the gene encodes a protein that is homologous to the Class I HLA antigens (Feder, et al., 1996). The alteration in HFE protein that produces hereditary haemachromatosis involves the mutation of a cysteine to a leucine at position 282 (C282Y). People who have one copy of the mutant HFE gene are carriers who only rarely develop iron overload (usually in association with a second defect.) People with two copies of the mutant protein can develop iron overload and the myriad of problems that it can produce (see below). Nearly 90% of people who have hereditary haemochromatosis have the C282Y mutation in HFE (Nielson, et al., 1998). Only recently have investigators gained insight into the mechanism by which the mutation in HFE alters cellular iron metabolism. Iron in the circulation is bound to the protein, transferrin, which maintains it in a non-toxic state. Cells contain receptors for transferrin on their plasma membranes which mediate cellular iron uptake. Transferrin receptors bind iron-transferrin complexes which are taken into endosomes. Iron is separated from transferrin in the endosome, and is shuttled into the interior of the cell. The iron-free transferrin (apotransferrin) is recycled into the circulation and is free to bind and transport additional iron atoms. The HFE protein associates with the transferrin receptor and prevents internalization of iron-transferrin complex into cells (Gross, et al., 1998). The HFE protein, in effect, acts as a brake on cellular iron uptake.

50. Hospital Practice: Hemochromatosis hemochromatosis therefore presents the issues surrounding genetic testing in especially Like many other genetic diseases, hemochromatosis can be lethal, http://www.hosppract.com/genetics/9908mmc.htm

Hemochromatosis: A"Simple" Genetic Trait RICHARD D. PRESS Oregon Health Sciences University With the discovery of the causative gene, the disorder stands revealed as America's single most common mendelian disease. Unlike other genetic diseases, it is already curable. Indeed, genetic screening makes it potentially preventable. Yet a finding of disease-related genotype can also lead to stigmatization. Hemochromatosis therefore presents the issues surrounding genetic testing in especially stark form. Dr. Press is Associate Professor of Pathology and Molecular and Medical Genetics and Director of Molecular Pathology, Oregon Health Sciences University School of Medicine, Portland. "I've been practicing for forty years and I've never seen a case of hemochromatosis." Such a statement represents a long- and widely held belief that hereditary hemochromatosis is a rare disorder, to be discussed chiefly as a medical curiosity. The belief is greatly mistaken. Hemochromatosis is common, affecting 0.3% to 0.8% of the American populationroughly one person in every 200, or about 1.5 million in all. Indeed, in America it is the single most common mendelian disease, far more common than cystic fibrosis, sickle-cell anemia, or phenylketonuria. Hence, any physician with lengthy experience will have seen tens or even hundreds of cases, which are all too likely to have gone unrecognized or attributed to other causes. Even among cirrhotic patients awaiting liver transplantation, a third of the cases arising from hemochromatosis have not been traced to that cause.

51. Hereditary Hemochromatosis To Begin The Lecture, Click The START Lists of Lectures Front Page. Hereditary hemochromatosis. To begin the lecture, click the START button above. Objective http://www.pitt.edu/~super1/lecture/lec11811/

Lists of Lectures Front Page Hereditary Hemochromatosis To begin the lecture, click the START button above. Objective If you are the first time visitor, you might want to know [ How to navigate within and outside the lecture This is a beta version. Uploading date: September 27, 2003 Your comments to this version would be highly appreciated as well. Submit Your comments

52. Genome.gov | Learning About Hereditary Hemochromatosis Answers to frequently asked questions about hereditary hemochromatosis, published by the National Human Genome Research Institute. http://www.genome.gov/10001214

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... Specific Genetic Disorders Learning About Hereditary Hemochromatosis Learning About Hereditary Hemochromatosis What do we know about hereditary hemochromatosis? Is there a test for hereditary hemochromatosis? NHGRI Clinical Research on Hereditary Hemochromatosis Additional Resources for Hereditary Hemochromatosis Information What do we know about hereditary hemochromatosis? Hereditary hemochromatosis (HH) is a genetic disease that alters the body's ability to regulate iron absorption. If correctly diagnosed, HH is easily and effectively treated, but if untreated, it can lead to severe organ damage. Caucasians of northern European descent are at highest risk. An estimated one million people in the United States have hereditary hemochromatosis. HH causes the body to absorb too much iron. Normally humans extract needed iron from food via the intestines. When there is an adequate amount of iron, the body reduces its absorption to avoid excessive accumulations. In a person with HH, the mechanism for regulating iron absorption is faulty and the body absorbs too much iron. Over time - several years - this excess iron is deposited in the cells of the liver, heart, pancreas, joints and pituitary gland, leading to diseases such as cirrhosis of the liver, liver cancer, diabetes, heart disease and joint disease.

53. Genome.gov | Learning About Hereditary Hemochromatosis hemochromatosisDiagnosis of hemochromatosis. Ann Intern Med 1998;12992531; Barton JC, McDonnel SM, et al. Management of hemochromatosis. Ann Intern Med 1998;129932-9 http://www.genome.gov/page.cfm?pageID=10001214

54. Hereditary Hemochromatosis Disease Profile Images of all 24 human chromosomes and different genes that have been mapped to them. Free wall poster available from Web site. http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/hh.shtml

Human Genome Project Information Genomics:GTL Microbial Genome Program home The U.S. Department of Energy Biological and Environmental Research program funds this site. Genetic Disorder Profile: Hemochromatosis For more about the gene that causes hereditary hemochromatosis, see the HFE Gene Profile . The following disease information was adapted from NIH Publication No. 00-4621 Hereditary Hemochromatosis Timeline - Hemochromatosis is first described by Tousseau, who cared for a diabetic patient with cirrhosis of the liver and bronzed skin pigmentation, classic symptoms of HH. - Von Recklinghausen names the disease "hemochromatosis" and identifies an iron-containing pigment in the liver cells of cirrhosis patients. - Sheldon describes the hereditary nature of the disease in his text Haemochromatosis - Stevens reported that a gene for HH may be located on chromosome 6 near the HLA-A locus. Simon concluded that HH demonstrates recessive inheritance. - Feder identifies the hemochromatosis gene and the missense mutations (Cys282Tyr and His63Asp) that cause HH. The hemochromatosis gene was originally HLA-H, but was later changed to HFE.

55. Hemochromatosis Gene Images of all 24 human chromosomes and different genes that have been mapped to them. Free wall poster available from Web site. http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/hfe.shtml

Human Genome Project Information Genomics:GTL Microbial Genome Program home The U.S. Department of Energy Biological and Environmental Research program funds this site. The Hemochromatosis Gene Approximate gene location is based on Chromosome 6 map from NCBI Entrez Map Viewer Official Gene Symbol: HFE Alternate Symbol: HLA-H Name of Gene Product: hereditary hemochromatosis protein Locus: 6p21.3 The HFE gene is found in region 21.3 on the short (p) arm of human chromosome 6. Size: The HFE gene's 7 coding regions (exons) are scattered over about 10,000 base pairs of genomic DNA. Exons translated into the HFE protein are interspersed with segments of noncoding DNA (introns). After transcription, introns are spliced out and exons are pieced together to form an mRNA transcript about 2700 bp long. The mRNA is then translated into the 348-amino acid sequence of the hereditary hemochromatosis protein [1,2,3]. Mutations in the HFE gene can result in hereditary hemochromatosis (HH). Protein Function The HFE protein is a transmembrane protein expressed in intestinal and liver cells; it works in conjunction with another small protein called beta-2-microglobulin to regulate iron uptake [4]. Although homologous to other major histocompatibility complex (MHC) class I proteins that present antigens to killer T cells, the HFE protein appears to have no immunological function [5]. The HFE protein is an interesting example of how homology is not always an indicator of protein function.

56. Hemochromatosis A chapter from The Cleveland Clinic Disease Management Project written by Anthony S. Tavill, MD, which discusses hemochromatosis. http://www.clevelandclinicmeded.com/diseasemanagement/gastro/hemochromatosis/hem

Published August 13, 2002 Anthony S. Tavill, MD Department of Gastroenterology and Hepatology Print Chapter The Cleveland Clinic Foundation There are many inherited metabolic diseases that may have a pathologic impact on the liver. In many cases the liver component of these diseases is only an epiphenomenon of a more generalized systemic disorder. Examples of such epiphenomena are glycogen and lipid storage diseases in which hepatomegaly is a manifestation of the underlying metabolic defect although the liver is not necessarily the major target organ. However, there are three genetically determined diseases in which the liver may be the principal target organ, with manifestations of acute, subacute, or chronic disease that may become evident in early or later life. These are hereditary hemochromatosis (HH), a major disorder of iron overload; Wilson's disease , a genetic disorder of copper overload; and

57. Hemochromatosis - Page 1 Hereditary hemochromatosis is a manic disorder in which individuals Hereditary hemochromatosis is thought to occur with equal frequency in both sexes. http://www.gastromd.com/education/hemochromatosis.html

Home Dr. Jensen General Info Privacy Statement ... Print this page Hereditary hemochromatosis is a manic disorder in which individuals absorb slightly more iron than normal. This process occurs over decades. However, tissue damage occurs after significant amounts of iron have been absorbed. In most cases, the individual has absorbed approximately 15-20 grams of iron. It is at this amount of absorbed iron in which patients begin to have tissue damage. Also, it is at this amount of absorbed iron that produces significant organ system damage in individuals. Hereditary hemochromatosis is thought to occur with equal frequency in both sexes. However, since regular blood loss through normal menses occurs in females, the preponderance of cases is in males. This approximates 8-1 male to female ratio. Recently, a test has been developed which detects the cellular or genetic abnormalities responsible for many cases of hemochromatosis. The liver is the first site of iron overload in hereditary hemochromatosis. This is based on absorption of iron by the liver. When food is ingested, it is absorbed in the small intestine. This absorption passes into the veins that then form the portal vein. The portal vein then is directed to the liver. The portal vein then divides into small veins that provide the liver cells with nutrients absorbed from the intestine, thus, the liver is the first site in which iron absorption occurs. Typically, liver function tests are elevated in individuals.

58. What Is Hemochromatosis? - Liver Health Information - The American Liver Foundat hemochromatosis is an inherited condition that causes the body to absorb and store The hemochromatosis gene, called HFE, was identified in 1996 and is http://www.liverfoundation.org/db/articles/1013

Liver Health Articles Liver Health Links Patient Stories PDF Newsletter ... Publications What is Hemochromatosis? Hemochromatosis is an inherited condition that causes the body to absorb and store too much iron. It is the most common inherited disorder affecting more than one million people in the United States who carry both copies of the abnormal gene. It is estimated that 10% of the population are carriers of one copy of the abnormal hemochromatosis gene. Many cases go undiagnosed because neither parents nor physicians have been alerted to the problem. The most vital factor in making an early diagnosis is enhanced recognition of the disease by doctors and patients. This is particularly important since early diagnosis and prompt treatment can prevent all of the long-term complications of the disease. Who is most likely to get hemochromatosis? The hemochromatosis gene, called HFE, was identified in 1996 and is inherited from both parents. It is most often diagnosed in people who exhibit symptoms and are between the ages of 40 and 60 years old. Women who lose iron through menstruation, pregnancy, and breast-feeding often develop symptoms at a later age than men. Anyone who has a blood relative with hemochromatosis should be tested even if there are no symptoms. What are the symptoms?

59. Hemochromatosis hemochromatosis is a hereditary disorder of small intestine in which the body If undiagnosed and left untreated, hemochromatosis can result in liver http://www.brown.edu/Courses/Digital_Path/Liver/hemochromatosis.htm

Hemochromatosis General description H emochromatosis is a hereditary disorder of small intestine in which the body overabsorbs iron from food. Various organs such as pancreas, liver, and skin stores the excess iron. And these deposits eventually damages the organs and tissues. If undiagnosed and left untreated, hemochromatosis can result in liver disease, heart disease, and diabetes. Incidence Approximately 1 in 200 have mutations in hemochromatosis gene (HFE). Affects about 1.5 million people in US. Symptoms Weakness Fatigue Abdominal pain General muscle aches Joint pain in the fingers Shortness of breath on physical exertion Increased skin pigmentation (a bronze color) Loss of body hair Enlarged liver Pathophysiology Autosomal recessive disease. Defective in HFE protein, which is thought to control the intestine's mucosal barrier to iron absorption. Excess iron is highly toxic and reactive. Body cannot excrete excess iron. Excess iron is deposited in various organs, and subsequently induces inflammation by generating free radicals. Histopathology Brown, granular pigments seen here indicate the presence of iron in hepatocytes. Most of the hepatocytes appear pale due to autolysis.

60. Haemochromatosis - Wikipedia, The Free Encyclopedia From Wikipedia, the free encyclopedia. (Redirected from hemochromatosis). Haemochromatosis, also spelled hemochromatosis, is a hereditary disease http://en.wikipedia.org/wiki/Hemochromatosis

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Haemochromatosis From Wikipedia, the free encyclopedia. (Redirected from Hemochromatosis Haemochromatosis Haemochromatosis , also spelled hemochromatosis , is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder Contents Signs and symptoms Diagnosis Imaging features Chemistry ... edit Signs and symptoms Haemochromatosis is notoriously protean, i.e. it presents with symptoms that are often initially attributed to other diseases. Symptoms may include: malaise liver cirrhosis (with an increased risk of hepatocellular carcinoma , affecting up to a third of all homozygotes ) - this is often preceded by a period of a painfully enlarged liver insulin resistance (often patients have already been diagnosed with diabetes mellitus type 2) erectile dysfunction and hypogonadism congestive heart failure arrhythmias or pericarditis arthritis of the hands ( MCP and PIP joints knee and shoulder joints dysfunction of certain endocrine organs pancreatic gland adrenal gland (leading to adrenal insufficiency parathyroid gland (leading to hypocalcaemia pituitary gland testes or ovary (leading to hypogonadism a darkish colour to the skin (see pigmentation , hence its name Diabete bronze when it was first described by Armand Trousseau in

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