41. Effects Of Hemochromatosis revised February 4, 1999 Effects of Iron Overload. Hereditary hemochromatosis. Hereditary hemochromatosis is the more common of the two by far. 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.

42. University Of Chicago | Hemochromatosis hemochromatosis. What Is hemochromatosis? hemochromatosis is a genetic disorder that causes the body to absorb too much iron, resulting in iron overload. http://gi.bsd.uchicago.edu/diseases/liverdisease/hemochr.html

Diseases We Treat Colorectal and Other GIl Cancers Inflammatory Bowel Disease Liver Disease ... Home Hemochromatosis What Is Hemochromatosis? Hemochromatosis is a genetic disorder that causes the body to absorb too much iron, resulting in iron overload. Such an accumulation of iron can damage vital organs and joints, and can even be fatal. Hemochromatosis is hereditary. The American Journal of Gastroenterology estimates that between 600,000 to 1 million Americans have this condition while an additional 27 million people carry the gene, but do not develop clinical symptoms. Iron helps make and maintain red blood cells, the cells that transport oxygen throughout the body. The body must regulate the amount of iron in its system because too much iron or too little iron can be problematic. The body maintains a balance of iron by absorbing small amounts of iron necessary to replenish equal amounts lost. Patients with hemochromatosis absorb more iron than the body can eliminate. As a result, the body stores high levels of iron that begin to accumulate in the cells. Eventually, the excess iron causes tissue and organ damage Clinical Features Common features include weakness and fatigue, joint pain, abdominal pain, loss of sex drive, and shortness of breath. Patients are at risk for the development of cirrhosis, diabetes, congestive heart failure, abnormal heart rhythms, increased skin pigmentation, liver cancer, and infections.

43. Hereditary Hemochromatosis Disease Profile Genetic Disorder Profile hemochromatosis. For more about the gene Other hemochromatosis Resources. Your Genes, Your Health hemochromatosis 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.

44. Hemochromatosis / The Family Village Library Library G H. hemochromatosis. Who to Contact. American hemochromatosis Society Inc. 4044 West Lake Mary Boulevard Unit 104, PMB http://www.familyvillage.wisc.edu/lib_hemo.htm

Hemochromatosis Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Hemochromatosis" Who to Contact American Hemochromatosis Society Inc. 4044 West Lake Mary Boulevard Unit #104, PMB 416 Lake Mary, FL 32746-2012 1-888-655-4766 (toll free hotline) 407-829-4488 (phone) 407-333-1284 (fax) E-mail: mail@americanhs.org Web: http://www.americanhs.org/ The mission of the American Hemochromatosis Society (AHS) is to educate and support the victims of HFE-associated hereditary hemochromatosis (genetic iron overload) and their families as well as educate the medical community on the latest research on Hereditary Hemochromatosis (HH). AHS' aim is to identify through genetic testing, the 43 million+ Americans who unknowingly carrying the single or double gene mutations for HH which puts them at risk for loading excess iron. AHS recognizes and envisions that it is possible now and in the future to prevent needless deaths, disability, organ damage, very costly joint replacements, chemoembolization and surgery for liver cancer, and organ transplants caused by hereditary hemochromatosis/iron overload through routine/universal screening for HH of the American public, DNA newborn genetic screening for HH for all children in America, and establishment of universal guidelines for diagnosis and treatment for HH in minor children and adults Iron Overload Diseases Association 433 Westwind Drive North Palm Beach, Florida 33408-5123

45. Links On Hemochromatosis, Hemochromatosis, Haemochromatosis, Iron Overload, Heam hemochromatosis LINKS from all over the world! hemochromatosis, haemochromatosis, iron overlaod, heamochromaotsis, hemochromotosis http://members.tripod.com/~hemochromatose/linkseng.html

var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" This page has been moved to http://hemochromatose.tripod.com Click on the link above. You will be automatically transferred in 5 sec! lege cartridge / cartridges

46. EMedicine - Hemochromatosis : Article By Hady E Sfeir, MD hemochromatosis hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. hemochromatosis. http://www.emedicine.com/MED/topic975.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 Medicine, Ob/Gyn, Psychiatry, and Surgery Gastroenterology Hemochromatosis Last Updated: September 12, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: hereditary hemochromatosis, genetic hemochromatosis, primary hemochromatosis AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Hady E Sfeir, MD , Consulting Staff, Department of Internal Medicine, Decatur Memorial Hospital Coauthor(s): David M Klachko, MBBCh , Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes and Metabolism, University of Missouri Hady E Sfeir, MD, is a member of the following medical societies: American Association of Clinical Endocrinologists Editor(s): Vivek Gumaste, MD , Chief, Clinical Associate Professor, Department of Internal Medicine, Division of Gastroenterology, Elmhurst Hospital Center, Mount Sinai School of Medicine;

47. 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 CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Radiology Gastrointestinal Hemochromatosis Last Updated: December 7, 2001 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

48. Hemochromatosis-Blood Diseases & Disorders Blood Diseases. hemochromatosis. What is hemochromatosis? hemochromatosis, also called iron overload disease, is the most common genetic disorder in the US. http://www.umm.edu/blood/hemachro.htm

Donations / Banking Blood Diseases Blood Disorders... Anemias ... Site Map Related Resources Within UMM Hematology Pediatric Oncology Blood Diseases Hemochromatosis What is hemochromatosis? Hemochromatosis, also called iron overload disease, is the most common genetic disorder in the US. It is a metabolic disorder that causes increased absorption of iron, which is deposited in the body tissues and organs. The iron accumulates in the body where it may become toxic and cause damage. What causes hemochromatosis? The carrier frequency is estimated at one in 10 to one in 15, which means that one in 200 to one in 400 persons has hemochromatosis. Although hemochromatosis is an autosomal recessive disorder (which usually means men and women are equally affected), this condition is 10 times more common in men than women. The age of onset is also earlier in males than females. The reasons for these differences are thought to be due to iron loss through menses in females. In other words, females do not build up iron as quickly over time. What are the symptoms of hemochromatosis?

49. CNN - Hemochromatosis: If You Don't Know What It Is, You Should - July 26, 1999 hemochromatosis If you don t know what it is, you should. July 26, 1999 Web posted at 559 PM EDT (2159 GMT). What is hemochromatosis? http://www.cnn.com/HEALTH/9907/26/hemochromatosis/

[an error occurred while processing this directive] MAIN PAGE WORLD U.S. LOCAL ... daily almanac MULTIMEDIA: video video archive audio multimedia showcase ... more services E-MAIL: Subscribe to one of our news e-mail lists. Enter your address: document.write(' '); Or: Get a free e-mail account E-MAIL DISCUSSION: message boards chat feedback CNN WEB SITES: AsiaNow Svenska Norge Danmark ... Italian FASTER ACCESS: europe japan TIME INC. SITES: Go To ... Time.com People Money Fortune EW CNN NETWORKS: more networks transcripts SITE INFO: help contents search ad info ... jobs WEB SERVICES: health > story page Hemochromatosis: If you don't know what it is, you should July 26, 1999 Web posted at: 5:59 PM EDT (2159 GMT) In this story: What is hemochromatosis? Early detection is key Treatment Pitfalls ... RELATEDS By Kiki Alderon SYMPTOMS AND COMPLICATIONS If you have any of the following conditions, you should be screened for hemochromatosis: an enlarged liver, cirrhosis or cancer of the liver, arthritis, diabetes or heart irregularities. Other symptoms include: weakness and/or fatigue abdominal pain bronzed skin that is not the result of sun exposure decreased libido impotence loss of bone density (WebMD) If, say, 300 Americans had to name the most common genetic disorder in the United States, most of them probably wouldn't guess the correct answer.

50. What Is Hemochromatosis? - Liver Health Information - The American Liver Foundat hemochromatosis? hemochromatosis is an inherited condition that causes the body to absorb and store too much iron. Who is most likely to get hemochromatosis? 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?

51. Hemochromatosis: What Is It? Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders hemochromatosis, autosomal recessive, genetic disorder. http://www.ygyh.org/hc/whatisit.htm

Concept 1 : Children resemble their parents. Learn how Mendel worked out inheritance in pea plants. Concept 10 : Chromosomes carry genes. Find out how genes are arranged on chromosomes.

52. Neonatology On The Web: Neonatal Hemochromatosis Neonatal hemochromatosis. Bibliography. McKusick, Victor A., 231100 Neonatal hemochromatosis, Mendelian Inheritance in Man, Johns Hopkins University Press. http://www.neonatology.org/syllabus/hemochromatosis.html

Neo Home New Clinical Computers ... Links Neonatal Hemochromatosis Prepared by Sharon Young, M.D. CSMC NICU Teaching Rounds Definition Intrauterine onset of severe liver disease Contrast with transfusional siderosis = Fe deposits in macrophages of reticuloendothelial system Types Primary Hemochromatosis Idiopathic hemochromatosis inheritance: AR associated with HLA locus on chr. 6 onset later in childhood AD hemochromatosis not associated with HLA locus onset of illness usually in middle age triad: liver cirrhosis, DM, bronze skin Secondary Hemochromatosis Bantu siderosis excessive ingestion of Fe from home brewed beer decreased transferrin portosystemic shunting anemia liver dz excessive dietary Fe intake Clinical Manifestations stillborn, premature, or IUGR liver damage hypoglycemia (as pancreas is damaged, serum glucose increases) hypoalbuminemia edema coagulopathy (+/- DIC, decreased platelets, decreased fibrinogen) increased Fe, increased ferritin, increased % saturation decreased transferrin normal or decreased AST/AST much increased AFP decreased alpha-1-antitrypsin increased direct bilirubin HSM cardiomyopathy renal cystic changes's Diagnosis Labs: ferritin 500 ng/dL normal or decreased AST/AST much increased AFP excretion of Fe with Desferal MRI shows Fe deposits liver biopsy, but perhaps salivary gland biopsy secondary to easier hemostasis

53. Postgraduate Medicine: Hepatic Disorders Symposium: Hereditary Hemochromatosis Hereditary hemochromatosis. Preventing chronic effects of this underdiagnosed disorder. An illustrative case of hereditary hemochromatosis. http://www.postgradmed.com/issues/1997/12_97/mcdon.htm

Hereditary hemochromatosis Preventing chronic effects of this underdiagnosed disorder Sharon M. McDonnell, MD, MPH; David Witte, MD, PhD VOL 102 / NO 6 / DECEMBER 1997 / POSTGRADUATE MEDICINE This page is best viewed with a browser that supports tables This is the second of four articles on heptic disorders Preview : Hereditary hemochromatosis, once thought to be rare, is the most common genetic disorder in the United States. Nonetheless, the condition often goes undetected and untreated until its severe effects have become apparent. What clues can lead you to the diagnosis, and how can you spot them in your patients, before significant morbidity has occurred? In this article, Drs McDonnell and Witte discuss the diagnosis and management of this underrecognized problem as well as the various issues involved in screening. An illustrative case of hemochromatosis is also included. I ron overload is classified as primary or secondary, depending on the underlying mechanism. Primary iron overload results from abnormally increased absorption of dietary iron in the small intestine. Secondary overload results mainly from iron accumulated as a consequence of ineffective erythropoiesis, multiple blood transfusions, or prolonged, excessive intake of dietary iron (1). Hereditary hemochromatosis is a type of primary iron overload. The excess iron that is absorbed is deposited in the parenchymal cells of the liver, heart, joints, pancreas, and other endocrine organs, causing inflammation and subsequent fibrosis and destruction, which results in organ failure and, ultimately, chronic diseases (1,2).

54. Hemochromatosis: A Metabolic Disease Of Softbills hemochromatosis A Metabolic Disease of Softbills. The bottom line is that if you deal with softbills, you will encounter hemochromatosis sooner or later. http://www.mynahbird.com/articles/ironstorage/ironstorage.html

Hemochromatosis A Metabolic Disease of Softbills by Darrel K. Styles, DVM, Hill Country Aviaries, L.L.C. One of the biggest challenges of keeping and maintaining a large softbill collection or just a single pet is the problem of the iron storage disease known as hemochromatosis. This disease affects a wide range of species including mynahs, toucans, tanagers, birds-of-paradise, and many other softbills. It is not a disease we see in parrots, finches, or canaries. Hemochromatosis is probably the leading cause of death of mynas and toucans in captivity, and collections of birds-of-paradise have been decimated by this malady. The cause is unknown, but the effect is a massive uptake and storage of iron in the liver. This excessive storage leads to hepatomegaly or liver enlargement. Consequently, some degree of liver dysfunction is observed. However, the most remarkable aspect of the pathology of the disease is liver enlargement. This enlargement leads to ascites or fluid exuded into the air sacs. This fluid in combination with an oversized liver results in dyspnea, or difficulty in breathing. The clinical presentation of these birds is often a myna or toucan with a swollen abdominal area accompanied by open-mouthed breathing. I have seen this problem displayed so severely in mynahs that if you changed their position from upright to lateral, the birds began to drown in their own fluids, which were leaking from the air sac into the lung. Large quantities of fluid may be taken from a small bird.

55. Hereditary Hemochromatosis Hereditary hemochromatosis. To begin the lecture, click the START button above. Objective. If you are the first time visitor, you 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

56. HealthlinkUSA Hemochromatosis Links Kanoodle.com. Try searching for hemochromatosis at ExactSeek.com. Click here for page 1 of hemochromatosis information from the HealthlinkUSA directory. http://www.healthlinkusa.com/Hemochromatosis.htm

57. MoSt GeNe/Genetic Drift/DNA Testing For Hereditary Hemochromatosis 14 Spring, 1997. DNA Testing for Hereditary hemochromatosis. There is high morbidity and mortality associated with untreated hemochromatosis. http://www.mostgene.org/gd/gdvol14c.htm

Previous Section This Issue- Table of Contents Next Section Molecular Genetic Testing in Mainstream Medicine Vol. 14: Spring, 1997 DNA Testing for Hereditary Hemochromatosis Introduction Key Points The HH gene and mutations Indications for DNA testing ... Illustrative case report Introduction Hereditary hemochromatosis (HH) is regarded as the most common genetic disorder in Caucasians, with an estimated prevalence of 1/200-1/400 (homozygotes) and a carrier frequency (heterozygotes) of 1/8-1/10. It is an excellent example of a common genetic disorder with high morbidity and mortality which is preventable if diagnosed early. A DNA test for hemochromatosis has recently become available and will be a valuable aid for early detection of this disorder. Hemochromatosis is characterized by increased iron absorption in the intestine, resulting in a gradual build-up of excess iron (iron overload). Most homozygotes develop symptoms in adulthood, although the age of onset has been as young as 2 years. Heterozygotes are usually asymptomatic. Early symptoms in homozygotes are multisystemic and often non-specific, including malaise, fatigue, impotence, abdominal pain, or joint pain. As iron storage increases, deposits occur in organs such as the liver, heart, and pancreas, leading to organ damage and dysfunction.

58. Hemochromatosis hemochromatosis. Definition hemochromatosis is a disorder that interferes with iron metabolism and results in excess iron deposits throughout the body. http://www.healthscout.com/ency/article/000327.htm

Advertisement Search HealthScout Web MEDLINE Special Offers TV Specials Top Features Schizophrenia Hair Loss Liver Disease Allergies ... Impotence Resources Healthscout News 3D Interactive Human Atlas Health Videos Health Encyclopedia ... Drug Library Channels Home Today Women Men ... Drug Checker Advertisement Disease Injury Nutrition Poison ... Prevention Hemochromatosis Definition: Hemochromatosis is a disorder that interferes with iron metabolism and results in excess iron deposits throughout the body. Causes, incidence, and risk factors: Primary hemochromatosis is the most common genetic disorder in the US, affecting an estimated 1 of every 200-300 Americans. Similar symptoms may occur from the secondary form of hemochromatosis, which can be caused by other diseases such as thalassemia or sideroblastic anemia. Hemochromatosis may also be caused by having a large number of blood transfusions, particularly in patients who get them for inherited or pre-malignant anemias. Occasionally, it may be seen with hemolytic anemia, porphyria cutanea tarda, excessive oral iron ingestion, and chronic alcoholism. First, excess iron accumulates in the liver and causes

59. Discovery Health Hemochromatosis hemochromatosis is a genetic disorder that affects the way the body handles iron. search, hemochromatosis. By Ronald J. Jorgenson, DDS, PhD, FACMG. http://health.discovery.com/diseasesandcond/encyclopedia/672.html

60. Hemochromatosis - Page 1 Print this page. Hereditary hemochromatosis is a manic disorder in which individuals absorb slightly more iron than normal. This process occurs over decades. 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.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 104    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20