21. MSU DNA LAB-genetic Testing HOME Since 1993, tests for cystic fibrosis, hereditary hemochromatosis, apolipoprotein E, fragile X syndrome, and methylenetetrahydrofolate reductase genetic testing. Michigan State University, College of Human Medicine, East Lansing, MI. http://www.phd.msu.edu/DNA/

B240 Life Science Building, East Lansing, MI 48824-1317, Fax: 517-353-8464 Email: dnadiag@msu.edu TESTS OFFERED TEST INFORMATION FOR: Cystic Fibrosis Hereditary Hemochromatosis Apolipoprotein E Genotyping Fragile X Syndrome Methylenetetrahydrofolate reductase Welcome to the MSU DNA Diagnostic Program website! Our program is located on the campus of Michigan State University in the Department of Pediatrics and Human Development College of Human Medicine Since 1993, we have been dedicated to providing quality genetic testing at a reasonable cost. We strive to make available the most recent information regarding the tests we provide and are continually expanding our testing services. Our laboratory director is board certified by the American Board of Medical Genetics. Our staff also includes a Master’s trained genetic counselor and laboratory technicians, all of who are available to assist you with questions regarding our laboratory services. We provide test results and risk estimation based on DNA test results and family history. Abnormal results are promptly called to the referring physician/counselor. Final reports are sent by mail and/or fax. Please choose from the available options for more information.

22. Links On Hemochromatosis, Hemochromatosis, Haemochromatosis, Iron hemochromatosis LINKS from all over the world! hemochromatosis, haemochromatosis,iron overlaod, heamochromaotsis, hemochromotosis http://members.tripodnet.nl/hemochromatosis/

23. Predictive Genetics And DNA Diagnostics - Home Offers home collection kits for a range of tests including angiotensinogen, Factor V Leiden, hereditary hemochromatosis, periodontal disease and prothrombin. http://www.pgd2.com/

We provide genetic testing to promote a longer, healthier life. Genetic testing will allow those who are concerned about predisposition and family history to take preventative steps early. Testing is available nationwide. Our first priority is to our patients. In carrying out our day-to day business we: Treat our patients with respect and fairness. Provide quality testing with one of the fastest turn around times in the industry. Offer comprehensive follow-up to our patients and their families. Want to learn more about DNA? DNA Mutations Inheritance Why should I get tested? Home ... Contact Us

24. Hemochromatosis body needs. People with hemochromatosis absorb more than the body needs.The Tests for hemochromatosis. Screening for hemochromatosis http://www.niddk.nih.gov/health/digest/pubs/hemochrom/hemochromatosis.htm

Causes Risk Factors Symptoms Diagnosis ... For More Information Excess iron is stored in body tissues, especially the liver, heart, and pancreas. 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 organs and damages them. Without treatment, the disease can cause these organs to fail. Iron is an essential nutrient found in many foods. The greatest amount is found in red meat and iron-fortified bread and cereal. In the body, iron becomes part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues. Healthy people usually absorb about 10 percent of the iron contained in the food they eat to meet the body needs. People with hemochromatosis absorb more than the body needs. The body has no natural way to rid itself of excess iron, so extra iron is stored in body tissues, especially the liver, heart, and pancreas. Causes Genetic or hereditary hemochromatosis is mainly associated with a defect in a gene called HFE , which helps regulate the amount of iron absorbed from food. There are two known important mutations in

25. Hemochromatosis hemochromatosis is a disorder in which the body absorbs too much iron fromfood. Normally, any iron that the body doesn't need is excreted. http://www.niddk.nih.gov/health/hematol/pubs/hemoch/hemoc.htm

Hemochromatosis is a disorder in which the body absorbs too much iron from food. Normally, any iron that the body doesn't need is excreted. But in hemochromatosis, the excess iron is stored throughout the body, including in the pancreas, liver, and skin. The iron deposits damage these organs and tissues. Hemochromatosis is a hereditary disease and is sometimes called hereditary hemochromatosis, or HHC. Symptoms include fatigue, abdominal pain, jaundice (yellowing of skin and eyes), and a change in skin color to bronze or gray. Over time, hemochromatosis can cause liver disease, liver failure, liver cancer, heart disease, and diabetes. Hemochromatosis is diagnosed through blood tests that measure iron levels. Sometimes a liver biopsy is done to check for the amount of iron in the liver and for liver damage. Hemochromatosis is treated by drawing blood to remove excess iron from the body and keep it from building up in organs. For the first 18 months, blood is drawn once or twice a week. After that, blood is drawn once every 2 to 6 months for the rest of the person's life. Information is also available from: American Liver Foundation, 1425 Pompton Avenue, Cedar Grove, NJ 07009; tel: (800) 223-0179 or (201) 256-2550.

26. Iron Overload And Hemochromatosis The US Centers for Disease Control and Prevention provide reviewed information on hemochromatosis, including screening, information for patients, FAQ and resources. http://www.cdc.gov/nccdphp/dnpa/hemochromatosis/index.htm

National Center for Chronic Disease Prevention and Health Promotion Home About Us Site Map Visitor Survey ... Related Links Iron Overload and Hemochromatosis Iron overload and Hemochromatosis Information for Patients and Family Available in HTML and PDF In the United States, most cases of "iron overload" are caused by a genetic condition known as "hereditary hemochromatosis." Serious and sometimes fatal health problems may result from the excess iron that accumulates in the body. These complications may include severe weakness or fatigue, unexplained joint or abdominal pain, impotence, infertility, and loss of menstrual periods. The diseases associated with hemochromatosis include liver cancer, cirrhosis, arthritis, diabetes, and heart failure. Overview on Iron Overload and Hemochromatosis This section provides basic information on hemochromatosis, the signs and symptoms, diagnosis, treatment, questions regarding blood donation, prognosis and public health issues related to hemochromatosis. Iron Overload Disease due to Hereditary Hemochromatosis Additional background information, a diagram depicting the course of hereditary hemocromatosis, CDC program activities, and priorities for 2001 can be found here.

27. MEDLINEplus Medical Encyclopedia: Hemochromatosis hemochromatosis. Primary hemochromatosis is the most common genetic disorderin the US, affecting an estimated 1 of every 200300 Americans. http://www.nlm.nih.gov/medlineplus/ency/article/000327.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Hemochromatosis Contents of this page: Illustrations Definition Causes, incidence, and risk factors Symptoms ... Prevention Illustrations Hepatomegaly Definition Return to top Hemochromatosis is a disorder that interferes with iron metabolism and results in excess iron deposits throughout the body. Causes, incidence, and risk factors Return to top 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 liver enlargement . Then, other organs are affected. The disease may lead to the development of

28. Treatment And Maintenance Of Hemochromatosis Iron Overload offers the most current information on hemochromatosis. Coveredare the accepted protocols for diagnosis, treatment, maintanance and diet. http://www.ironoverload.org/treatment.html

Contact Us What's Happening - Association News 16 Facts You Should Know 21stAnnual Symposium -June 2003 ... Objections to Liver Biopsy Treatment and Maintenance Treatment It is important to establish an anemia and not let up on it until de-ironing has been completed. The might take from 6 months to three years depending on the iron burden. Age is never a reason to disqualify someone from treatment. Frailty, small of stature and extremely old/young may require the adjustment in amount of blood removed, but never adjust the frequency. This process can arrest or reverse most symptoms and return the patient to a normal life span. Some patients might experience a complete reversal of all symptoms. To exclude anyone from treatment for any reason is a death sentence. Chelation For those people who cannot be bled because of extreme anemia, there is chelation. The only chelator for iron approved in the US is Desferal (Desferoxomine). This approach lacks the complete efficacy of bloodletting and should be employed where absolutely necessary. Declared an orphan product by the manufacturer Norvartis , it is expensive. A course of chelator per year is $6000-$8000. For some it is infused over night with a portable pump at home during sleep over a 12 hour period. In most cases, the infusion pump is installed in the body of the patient.

29. ACP-ASIM Online A supplement to the Annals of Internal Medicine with articles about hemochromatosis. http://www.acponline.org/journals/annals/01dec98/supptoc.htm

Annals of Internal Medicine Current Issue Past Issues Library for Internists Subscriptions ... Email this page Annals of Internal Medicine 1 December 1998 Annals of Internal Medicine Supplement Iron Overload, Public Health and Genetics Annals of Internal Medicine INTRODUCTION Introduction to Supplement on Iron Overload, Public Health, and Genetics A.L. Franks and J.S. Marks DIAGNOSIS AND MANAGEMENT Diagnosis of Hemochromatosis L.W. Powell, D.K. George, S.M. McDonnell, and K.V. Kowdley Management of Hemochromatosis J.C. Barton, S.M. McDonnell, P.C. Adams, P. Brissot, L.W. Powell, C.Q. Edwards, J.D. Cook, K.V. Kowdley, and the Hemochromatosis Management Working Group POPULATION-BASED DATA Prevalence of Elevated Serum Transferrin Saturation in Adults in the United States A.C. Looker and C.L. Johnson Hemochromatosis-Associated Mortality in the United States from 1979 to 1992: An Analysis of Multiple-Cause Mortality Data Q. Yang, S.M. McDonnell, M.J. Khoury, J. Cono, and R.G. Parrish SCREENING Prevalence of Hereditary Hemochromatosis in 16 031 Primary Care Patients P.D. Phatak, R.L. Sham, R.F. Raubertas, K. Dunnigan, M.T. O'Leary, C. Braggins, and J.D. Cappuccio Screening for Hemochromatosis in Primary Care Settings S.M. McDonnell, P.D. Phatak, V. Felitti, A. Hover, and G.D. McLaren

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

31. Iron Disorders Institute | Home | The Definitive Source For Information On Hemoc Nonprofit National Voluntary Health Agency that provides information about disorders of iron such as hemochromatosis. http://www.irondisorders.org/

Iron Disorders Institute is a non-profit National Voluntary Health Agency that provides information about disorders of iron such as hemochromatosis acquired iron overload sickle-cell anemia, juvenile hemochromatosis African siderosis thalassemia porphyria cutanea tarda ... iron-deficiency anemia and anemia of chronic disease Information appearing on this website is reviewed by the Institute's Scientific Advisory Board . Prior to publication of web site pages, Patient or Physician Information Series literature, magazines, or books, these experts are consulted. No information appearing in Iron Disorders Institute publications, including this website, is intended to replace but rather to augment the relationship between patients and their physicians. Advertisement: Books about Iron: "Cooking with Less Iron" Forward by Dr. Richard Passwater. Introduction by Dr. Mark Princell. "Cooking with Less Iron" provides easy to prepare, old fashioned recipes and menus with tips on how to absorb less iron from the diet. Charts, food values, shopping list, menu planner and more! Excellent companion book to

32. Iron Disorders Institute | Disorders | Hemochromatosis | Introduction hemochromatosis hemochromatosis (HHC) is an inherited disorder of iron metabolism. Individualswith hemochromatosis absorb too much iron from the diet. http://www.irondisorders.org/disorders/hem/

Disorders: Hemochromatosis Introduction Hemochromatosis (HHC) is a genetic disorder of metabolism. Individuals with hemochromatosis absorb too much iron. Iron cannot be excreted therefore the excess 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. Therefore, undiagnosed and untreated HHC can develop into diseases such as diabetes, heart trouble, arthritis, liver disease, neurological problems, depression, impotence, infertility, and cancer. Iron build up in those with hereditary hemochromatosis 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 children. Dr. John Feder

33. Iron Disorders Institute | Disorders | Juvenile Hemochromatosis | Introduction Disorders Juvenile hemochromatosis Introduction. Juvenile hemochromatosis nonHFE related iron overload in youths. Juvenile hemochromatosis http://www.irondisorders.org/disorders/jvh/

Disorders: J uvenile Hemochromatosis: Introduction -HFE related iron overload in youths Juvenile Hemochromatosis / Iron Overload... Newborn, infant, child, juvenile and adolescent represent different age groups. In this section newborn is defined as birth to six months of age, infant as 7-12 months, child one to five years of age, juvenile as 6 to 12 years of age; adolescent as one 13 to 17; young adult as one 18 to 30 years of age. Definition: Hemochromatosis is a genetic metabolic disorder where a person absorbs too much iron and can result in dangerously high accumulation of iron in vital organs such as liver, heart, joints and brain which is a condition of iron overload. When iron overload presents in someone younger than the age of thirty, it is called Juvenile hemochromatosis (JH). The gene responsible for juvenile hemochromatosis is located on chromosome one, where the HFE gene, which is associated with adult iron overload is located on chromosome six. HFE related iron overload typically presents at an older age, generally in the patient's thirties, forties or fifties.

34. Books On Hemochromatosis Books on hemochromatosis. The Iron Disorders Guide to hemochromatosis (may 2001)by Cheryl Garrison. Its a annecdotal story on hemochromatosis, 111 pages. http://hemochromatose.tripod.com/books.html

Books on hemochromatosis The Iron Disorders Guide to Hemochromatosis (may 2001) by Cheryl Garrison. 352 pages, $15.95. Highly recommended! Everything you want to know on hemochromatosis and very up-to-date. Sometimes it is a bit to detailed. For a short version of hemochromatosis order one of the brochures from the IDI Cooking With Less Iron: Easy-To-Prepare, Reasonably Priced Meals That Reduce the Amount of Iron in Your Diet (nov 2001) by Cheryl Garrison , 288 pages, $16.95. Ironic Health, is to much iron making you ill (aug 2002) by Dr. Chris Whittington $18.95 + $4.50. Easy to read book. Its a annecdotal story on hemochromatosis, 111 pages. Hemochromatosis: Genetics, pathophysiology, diagnosis and treatment (march 2000) by Barton and Edwards 600 pages, $230. Review on this book in JAMA . VERY scientific book on HH. The Bronze killer (edition 2000) by Mary Warder from the Canadian Hemochromatosis Society, 176 pages, $19.40 Living with Hemochromatosis (will be published in March 2003) The Iron Elephant: What You Should Know About the Dangers of Excess Body Iron Free radicals and iron (1999)

35. Kimball Genetics - Hemochromatosis DNA Test A laboratory specializing in genetic testing and counseling for hemochromatosis,venous thrombosis, fragile X and other common disorders. http://www.kimballgenetics.com/tests-hemochrom.html

Hemochromatosis DNA Test Hereditary Hemochromatosis (HH) is the most common genetic disorder known, with a prevalence of 1/200 and a carrier frequency of 1/8 in Caucasians. This disorder involves excess iron absorption and storage in organs and leads to high morbidity and mortality if untreated. Historically, most cases have remained undiagnosed until late in the course of the disease when irreversible damage has already occurred. Early diagnosis allows for prevention of symptoms through treatment by phlebotomy. Two mutations associated with hemochromatosis have been discovered in the HFE gene. The major mutation, Cys282Tyr (also known as 845A) is present in the homozygous state in 85% of Caucasians with clinically diagnosed hemochromatosis. Most homozygotes (with two copies of the mutation) and some heterozygotes (with one copy of the mutation) develop iron overload and hemochromatosis. A second mutation, His63Asp (also known as 187G), appears to somewhat increase risk of iron overload. Although only a small percent of individuals (up to 6%) with this mutation develop hemochromatosis, DNA testing for hemochromatosis provides for effective early diagnosis and prevention. Indications for Hemochromatosis DNA Testing Clinical diagnosis of hemochromatosis Unexplained elevated serum concentrations of liver enzymes Cirrhosis, liver failure, or hepatocellular carcinoma

36. Hospital Practice: Hemochromatosis hemochromatosis A Simple Genetic Trait RICHARD D. PRESS Oregon HealthSciences University. The emerging goal is hemochromatosis prevention. 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.

37. The Family Village / Library / Hemochromatosis Library G H. hemochromatosis. Who to Contact. The hemochromatosisFoundation, Inc. HF PO Box 8569 Albany, New York, USA 12208-0596 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 AltaVista for "Hemochromatosis" Who to Contact The Hemochromatosis Foundation, Inc. [HF] P.O. Box 8569 Albany, New York, USA 12208-0596 Fax: [518] 489-0227 HF works to increase national awareness that hemochromatosis is not only the most common genetic disorder but that it is probably the only genetic disorder which, if diagnosed early and treated adequately, is compatible with a healthy and full life-span. They encourage routine screening for HF whenever possible, especially during routine exams. HF promotes increased awareness of government agencies and the food industries of the potential harm from unneeded extra dietary iron. HF provides brochures for physicians and health care professionals concerning the most recent information about the diagnosis, treatment and prognosis of the hereditary form of hemochromatosis. There are also video teaching tapes available for purchase, and a quarterly newsletter, Hemochromatosis Awareness Iron Overload Diseases Association 433 Westwind Drive North Palm Beach, Florida 33408-5123

38. Hemochromatosis Hereditary hemochromatosis, a condition in which excess (and ultimately toxic) levelsof 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 Cardiac/Heart Diabetes Liver By keywords: phlebotomy iron overload iron loading 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.

39. Iron Overload And Hemochromatosis Hereditary hemochromatosis is one of the most common genetic diseases in humans,but many people have never heard of it. Iron Overload and hemochromatosis. 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 July 2002 is Hemochromatosis Screening Awareness Month. So what exactly does that mean? 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.

40. Hemochromatosis What is Hereditary hemochromatosis? Nat Genet 1996 Aug;13(4)399408. Backto Top. Other links about Hereditary hemochromatosis and HFE gene http://humangen.med.ub.es/hemochro/hemochro.htm

Hereditary Hemochromatosis Contents What is Hereditary Hemochromatosis? Pattern of heredity Clinical Features Gene responsable of the Disease ... Other links about Hereditary Hemochromatosis What is Hereditary Hemochromatosis? Hereditary Hemochromatosis is an autosomal recessive disease resulting in abnormaly high intestinal iron absorption . The excess of body iron accumulates first in the liver and later in other organs, resulting in liver damage and other clinical disorders. Liver disease is characterized by progressive fibrosis leading to cirrhosis and hepatocellular carcinoma. Morbidity can be completely prevented, and life expectancy can be restored to normal, if the disease is detected early, before the development of cirrhosis, and treated by phlebotomy. Hereditary Hemochromatosis has been reported as the most frequent recessive disorder in individuals of European origin. One in 300 individuals is affected and one in eight individuals is heterozygous for the disease.In Spain it affects one out of 1100 persons, and one out of 17 are heterozygous carriers of the genetic defect (the C282Y mutation in the HFE gene). Back to Top Pattern of Heredity Hereditary Hemochromatosis is an Autosomal Recessive Disease.

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