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Click on the title to find general information on HH.

• Annals of Internal Medicine SUPPLEMENT DIAGNOSIS AND MANAGEMENT 
  Diagnosis of Hemochromatosis, Annals of Internal Medicine, 1 December 1998. 129:925-931. Lawrie W. Powell, MD; D. Keith George, MD; Sharon M. McDonnell, MD; and Kris V. Kowdley, MD

• Answers to your questions about hereditary hemochromatosis
   from The College of American Pathologists (CAP) Dec 18, 2001

• A population based study of the clinical expression of the clinical expression of the Hemochromatosis gene NEJM Sept 1999  Our findings have implications for population screening for hereditary hemochromatosis. 

• A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study.   Atherosclerosis 2001 Feb 15 Our prospective findings suggest that individuals carrying the HFE C282Y mutation may be at increased risk of CHD.

• Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles 
  Blood, 1 December 2000, Vol. 96, No. 12, pp. 3707-3711;  Ronald L. Sham, Richard F. Raubertas, Caroline Braggins, Joseph Cappuccio, Margaret Gallagher, and Pradyumna D. Phatak;  From the Department of Medicine, Rochester General Hospital, the Mary M. Gooley Hemophilia Center Inc, and The University of Rochester School of Medicine and Dentistry, Rochester, NY; and The Centers for Disease Control and Prevention, Atlanta GA.  Our study demonstrates that TS screening will identify many individuals with only modest degrees of iron loading who may not meet traditional phenotypic diagnostic criteria but who have genotypes associated with iron loading. Those with lower degrees of iron overload are less likely to be C282Y homozygotes. 

• CDC Search Results List This search of the Centers for Disease Control site yields about 169 results with various information on Hemochromatosis.

• Classification and diagnosis of iron overload  
  Haematologica 1998 May The recent description of new conditions associated with iron overload and the identification of the genetic defect of hereditary hemochromatosis prompted us to review this subject and to redefine the diagnostic criteria of iron overload disorders.

• Clinical aspects of hemochromatosis. Transfus Sci. 2000 Dec Brissot P, Guyader D, Loreal O, Laine F, Guillygomarc'h A, Moirand R, Deugnier Y. The diagnosis can, from now on, be ascertained on the sole association of a plasma transferrin saturation (TS) over 45% and homozygosity for the C282Y mutation. Liver biopsy is only required to search for cirrhosis whenever there is hepatomegaly and/or serum ferritin >1000 ng/ml and/or elevated serum AST.

• Clinical Consequences of New Insights in the Pathophysiology of Disorders of Iron and Heme Metabolism Hematology 2000  The American Society of Hematology The screening strategy could be based on the assessment of serum transferrin saturation in adults aged 18 or more. Genetic testing testing for C282Y would be confined to individuals with transferrin saturation > 45%. This strategy would then avoid the ethical, logistical, and financial problems raised by systematic genetic testing as well as the societal impact of discovering a genetic mutation in asymptomatic persons without a disease. It is, in fact, essential that major changes occur in the attitudes towards unexpressed or slightly expressed HFE homozygosity, especially by insurers and health care administrators, to avoid any adverse genetic discrimination.

• Clinical features of genetic hemochromatosis in women compared with men. 
  Moirand R, Adams PC, Bicheler V, Brissot P, Deugnier Y Ann Intern Med 1997 Jul 15;127(2):105-110 Women with genetic hemochromatosis can have full phenotypic expression of the disease, including cirrhosis. Recognizing the nonspecific nature of presenting symptoms in women is essential for early diagnosis and treatment.

• Clinical management of iron overload. Gastroenterol Clin North Am. 1998 Sep HHC is a common inherited disorder, characterized by iron accumulation in the liver, heart, pancreas, and other organs. The clinical consequences of systemic iron loading are diverse and not always improved with iron reduction therapy.

• Controversy in primary care BMJ 2000;320:1314-1317 ( 13 May ) Should asymptomatic haemochromatosis be treated?  Treatment can be onerous for patient and doctor  Commentary: False certainty of clinical guidance  Commentary: Early treatment is essential

• Current concepts in rational therapy for haemochromatosis.  
  Drugs. 1991 Jun . Venesection should be continued until all excess iron stores are removed as judged by failure of a rise in haemoglobin concentration on cessation of phlebotomy. Screening of first degree relatives should commence from a young age (e.g. 10 years).

• Diagnosis and management of hemochromatosis
  by Dr. Anthony Tavill, Director of the Maurice and Sadie Friedman Center For Digestive Diseases and Liver Disorders, Mathile and Morton J. Stone Professor of Digestive Diseases and Liver Disorders at the Mt. Sinai Medical Center, Professor of Medicine and Nutrition at Case Wetern Reserve University. [Excellent & thorough article of diagnosis & treatment.  This is a pdf file] 

• Dietary Iron Supplements - Use or not to use?  Nutrition Today James R. Connor John L. Beard 05-06-1997 There is little reason to support a general need for iron supplementation in the diet at any age. Perhaps this article and review of supplementation pros and cons should conclude with a new interpretation of an old saying: "It is better to wear out than to rust out;" don't expose your system to more iron than it needs.

• Dr. Rose's Peripheral Brain--HEMOCHROMATOSIS

• Effects of Iron Overload  Harvard University website  2-1999

• Epidemiology, clinical spectrum and prognosis of hemochromatosis,
  abnormality in liver function tests (75%), weakness and lethargy (74%), skin hyperpigmentation (70%), diabetes mellitus (48%), arthralgia (44%), impotence (45% in males), and ECG abnormalities (31%) were the most frequent findings and symptoms at diagnosis. Adv Exp Med Biol 1994

• Ferritin Physiology Overview of the function of ferritin with a section on hemochromatosis.

• Genetic Haemochromatosis:   A guideline on Diagnosis & Therapy compiled on behalf of the Clinical Task Force of the  British Committee for Standards in Haemotology  2/2000 [a pdf file]

• Genetic Haemochromatosis  SydPath: The Institute of Laboratory Medicine,  The Pathology Service of St Vincent's Hospital Sydney, Australia

• Haemochromatosis: iron still matters.
  Intern Med J 2001 May-Jun Our ability to detect those predisposed to haemochromatosis is greatly enhanced by testing for HFE mutations. Although the precise definition of iron overload is debated, a diagnosis of haemochromatosis cannot be made without demonstrating increased body iron stores.

• Haemochromatosis may present as exercise related joint pains without arthropathy, early treatment improving outcome, Case reports including x-ray pictures of hips, hands, knees. CLINICAL REVIEW Lesson of the week: Ian McCurdie and J David Perry BMJ 1999

• Hemochromatosis can now be appropriately defined as the presence of two hemochromatosis alleles with or without organ injury, and with or without the presence of iron overload. [I have not been able to retrieve the url to the website from where this came, so if anyone locates it, please let me know!]

• Hemochromatosis eMedicine Journal, December 7 2001, Volume 2, Number 12, Authored by Sandor Joffe, MD, Section Chief of Abdominal Imaging, Department of Radiology, Beth Israel Medical Center  This article covers the pathophysiology of hemochromatosis as well as the techniques in using ULS, CT & MRI to identify iron deposition in the organs. Pictures & descriptions from scans of the abdomen are shown.

• Hemochromatosis  Gale Encyclopedia of Medicine The symptoms of hemochromatosis include fatigue, weight loss, weakness, shortness of breath, heart palpitations, chronic abdominal pain, and impaired sexual performance. The patient may also show symptoms commonly connected with heart failure, diabetes or cirrhosis of the liver. Changes in the pigment of the skin may appear, such as grayness in certain areas, or a tanned or yellow (jaundice) appearance.

• Hemochromatosis: A Common, Rarely Diagnosed Disease  By Vincent J. Felitti, MD, FACP  Commentary by David Baer, MD, FACP.  Hemochromatosis is the most common, life-threatening genetic disorder in North America, yet most physicians have never personally diagnosed a case: all see an unrecognized case in their offices every two weeks.

• Hemochromatosis and Wilson disease: diagnosis and treatment  
  Chapter 20 in the book: "Evidence Based Gastroenterology and Hepatology"   Paul C. Adams.

• Hemochromatosis: a review.  Clin J Oncol Nurs 2001 Nov-Dec;5(6):257-60   Dolbey CH. Fletcher Allen Health Care, UHC Campus, Arnold 2, 1 South Prospect Avenue, Burlington, VT, 05401, USA. This disorder affects the liver, pancreas, heart, and endocrine systems, and if undetected and untreated, organ damage and death can result.

• Hemochromatosis, Cooley Dickinson Hospital Editor: George R Bowers MD CDH Oncology  January 2000 Volume 4: No. 1.   Hemochromatosis is a common, genetically transmitted disease. The diagnosis of hemochromatosis is sometimes difficult and frequently missed. This issue will review the pathogenesis, diagnosis and treatment of this fascinating disease. Ms. Kathy Fleming will review the management of a most troubling complication of therapy---lymphedema.

•  Hemochromatosis: diagnosis and management. Bacon BR.  Gastroenterology 2001 Feb  HFE mutation analysis has strengthened our ability to diagnose HH accurately and is useful in family studies. HFE mutations may play a contributory role in some patients with PCT, NASH, or chronic HCV.

• Hemochromatosis, Front Range Gastroenterology Associates, P.C.  
  2030 Mountain View Avenue, Suite 300, Longmont, CO.  Basic statistics on HH.

• Hemochromatosis: Gastrointestinal Health Hemochromatosis, the most common genetic disease in the United States, results in iron overload and, if left untreated, severe organ damage. 

• Hemochromatosis: genetics helps to define a multifactorial disease  
  Clin Genet, 54(1):1-9 1998 Jul University of Washington, Seattle 98105 wburke@u.washington.edu   Early detection is desirable, because periodic phlebotomy provides effective treatment for iron overload and may prevent complications of the disorder.

• Hemochromatosis:  Genetics, Pathophysiology, Diagnosis and Treatment, "Introduction to Hemochromatosis"  Part I,  by Barton & Edwards.  Except from their book, [a pdf file]

• Hemochromatosis:  Life Extension Foundation website.  Disease, Prevention & Treatment 3rd editon.  Dietary & Vitamin recommendations listed here including calcium for blocking of iron absorption.

• Hemochromatosis Mutation Detection, Cys282Tyr and His63Asp  
  Guide to Clinical Laboratory Testing &  Interpretation of genetic testing. 

• Hereditary Haemochromatosis and Iron Metabolism,
  Carlson J, Olsson S, eJIFCC vol 13 no 2, THE JOURNAL OF THE INTERNATIONAL FEDERATION OF CLINICAL CHEMISTRY.  Iron is easily removed from tissues through regular phlebotomy once a week until depleted iron stores are evident by S- ferritin < 30 µg/l. An early laboratory finding seen in HH is an abnormal saturation of transferrin (TS)to a level >45%.

• Hepcidin: A putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease. Proc. Natl. Acad. Sci. USA, Vol. 98, Issue 15, 8160-8162, July 17, 2001  The paper by Nicolas et al. in this issue of PNAS (3) presents the exciting possibility that a central player in the communication of body iron stores to the intestinal absorptive cells may have been identified.

• Hereditary hemochromatosis.  Ann Clin Lab Sci. 1998 Sep-Oct   Patients at risk for genetic hemochromatosis should be screened, identified, and treated as early as age 20 to prevent or minimize the deadly complications of hemochromatosis. Population screening should include measurements of serum iron concentration, total iron binding capacity (TIBC), percent saturation of transferrin, and serum ferritin concentrations.  Early diagnosis and treatment will reduce the population of aging individuals with severe, complicated hemochromatosis and dramatically reduce medical costs (billions of U.S. dollars per annum) associated with the management of this disease.

• Hereditary Hemochromatosis. A Public Health Perspective  “Early detection of iron overload disease represents a major chronic disease prevention opportunity. Detection and treatment (phlebotomy) of iron overload, early in the course of the illness, can substantially reduce the severity of symptoms,  organ damage, and death from associated chronic diseases.” David Satcher, MD, PhD Assistant Secretary for Health and U.S. Surgeon General,  This Public Health Perspective: Hereditary Hemochromatosis was a collaborative effort by the CDC's Office of Genetics and Disease Prevention and members of the Hemochromatosis team at the Division of Nutrition and Physical Activity at CDC's National Center for Chronic Disease Prevention and Health Promotion.  (April 2001)

• Hereditary Hemochromatosis 
  CME Activity, Release Date: 2/28/2000 Expiration Date: 2/28/2002 From the February 2000 Issue of Physician Assistant  Objectives: After reading the article, the reader should be able to:
  1. describe the pathophysiology of hereditary hemochromatosis;
  2. recognize the clinical symptoms and signs of hereditary hemochromatosis;
  3. outline screening and evaluation testing; and
  4. provide accurate diagnosis, management, and treatment.

• Hereditary hemochromatosis: diagnosis and treatment in primary care  Tenn Med 1999 Nov With early detection and treatment this can be a manageable chronic disease. If undetected, it is potentially fatal.

• Hereditary Hemochromatosis:  Early Detection of a Common Yet Elusive Disease.  Could you be missing it??  Pg. 237,  Consultant Magazine article, Feb. 2002, Vol. 42, No. 2, Consultations in primary care.  An excellent & comprehensive article written by Dr. Brian Pearlman.  It covers the prevalence, screening, genetics, clinical manifestations, diagnostic testing & treatment of hemochromatosis.   

• Hereditary Hemochromatosis FamilyPractice.com  Robert B. Hash, MD, Department of Family Medicine, Mercer University School of Medicine, Macon, Ga. [J Am Board Fam Pract Dec. 2000] Considering the prevalence of the disease, it is important for physicians to consider it in the differential diagnosis when patients complain of the common signs and symptoms. For most patients hereditary hemochromatosis can be successfully treated in the physician's office. Early diagnosis and treatment, before signs of iron toxicity, if possible, can result in improved quality and quantity of life for many patients.

• Hereditary hemochromatosis: impact of molecular and iron-based testing on the diagnosis, treatment, and prevention of a common, chronic disease.  Arch Pathol Lab Med. 1999 Nov Press RD. Department of Pathology, Oregon Health Sciences University, Portland 97201, USA. pressr@ohsu.edu This direct HFE mutation test can now be used not only to confirm the diagnosis of HH in those with symptomatic disease, but also, perhaps more importantly, to detect those with presymptomatic iron overload in whom future disease manifestations may be prevented (with phlebotomy therapy).

• Hereditary hemochromatosis: presentation and diagnosis in the 1990s. 
  Am J Gastroenterol. 1997 May Bacon BR, Sadiq SA. With the use of screening iron studies on routine serum chemistry panels, patients with hemochromatosis can be identified and subsequently treated before they have symptoms or organ damage.

• 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.  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.

• Hereditary Hemochromatosis Since Discovery of the HFE Gene  Clinical Chemistry 2001 [a pdf file] Includes an algorithm for screening and diagnosis of hemochromatosis. This review provides a comprehensive discussion of known mutations in the HFE gene and their phenotypic expression

• Homozygosity for hemochromatosis: clinical manifestations.  Ann Intern Med. 1980 Oct; Diagnosis of asymptomatic hemochromatosis is important because organ damage may be prevented by early therapy.

• How Do I Know If I've Got Too Much Iron?  "The Protein Power Lifeplan" by Michael R. Eades, MD and Mary Dan Eades, MD How much iron should you have in storage? Probably around 500 mg or a little less, which corresponds to a serum ferritin of 50 or lower.

• Investigating Anaemia and Iron Storage Disease
  Discussion of the different types of anemia, as well as the effects of iron overload.  

• Iron deficiency and overload in relation to nutrition  Nutritional iron intake in the Netherlands. IJzertekort en ijzerstapeling met betrekking tot voeding Spanjersberg MQI ; Jansen EHJM 34 p in English, 2000 Iron supplementation or fortification in functional foods should be avoided and discouraged until the risks of iron overload have been more clearly determined, since in the general population iron overload is associated with increased risk of several chronic diseases as well.

• 'Iron' Gene Mutation Increases Heart Attack Risk  
  Full Health Nutrition Canada ArterialHealth e-News^© December 1999 [located about halfway down the page] Those with an abnormal iron gene faced a 52% increased risk of heart attack with each 100 microgram increase in ferritin, while the risk in those with normal iron genes varied little with ferritin concentration. Carriers almost universally don't know that they are at increased risk... They have almost no increase in iron stores, but that small increase is significant and that small increase is probably what caused the increased incidence of heart disease deaths.

• Iron is Hot:  An Update on the Pathophysiology of Hemochromatosis: Blood Journal Sept. 15, 1998  Genetic iron overload disorders are prevalent yet poorly understood. [A pdf file.]

• Iron Loading and Disease Surveillance
  Eugene D. Weinberg   Indiana University, Bloomington, Indiana   Emerging Infectious Diseases Journal, National Center for Infectious Diseases, Centers for Disease Control and Prevention. Excessive iron in specific tissues and cells (iron loading) promotes development of infection, neoplasia, cardiomyopathy, arthropathy, and various endocrine and possibly neurodegenerative disorders.

• Iron Overload Disorder Common and Increases Risk for Heart Attacks
  Full Health Nutrition Canada ArterialHealth e-News^© October 1999 A genetic defect that causes iron overload disease is the most common inherited disorder among whites, affecting one in 188 people of northern European descent.
  
• Iron Overload (Hemosiderosis; Hemochromatosis) The Merck Manual of Diagnosis and Therapy Section 11. Hematology And Oncology Chapter 128. Hemochromatosis is often diagnosed late in the course of disease after significant tissue injury is present because the clinical symptoms are insidious and the extent of organ involvement varies; thus, the full clinical picture evolves slowly.

• Long-term survival in patients with hereditary hemochromatosis
  Gastroenterology, Vol 110, 1107-1119, 1996 by American Gastroenterological Association

• Management of hereditary hemochromatosis. Blood Rev. 1994 Dec Phatak PD, Cappuccio JD. Early diagnosis and institution of phlebotomy treatments will prevent these manifestations and normalize life expectancy. Once organ damage is established many of the manifestations are irreversible. Since the early manifestations of the disease are subtle, a case can be made for routine screening.

• Management of hemochromatosis. Hemochromatosis Management Working Group.
  Ann Intern Med. 1998 Dec 1  Barton JC, McDonnell SM, Adams PC, Brissot P, Powell LW, Edwards CQ, Cook JD, Kowdley KV.  The complications of iron overload in hemochromatosis can be avoided by early diagnosis and appropriate management.

• Molecular genetics of hemochromatosis 
  Ann Endocrinol (Paris) 1999 Sep Hemochromatosis is a recessive disorder of iron metabolism characterized by progressive iron loading of parenchymal organs, which accounts for clinical complications such as cirrhosis, diabetes mellitus, cardiopathy, endocrine dysfunctions and arthropathy.

• Overview on Iron Overload and Hemochromatosis CDC website, National Center for Chronic Disease Prevention and Health Promotion.  Early detection of hemochromatosis is essential because the disease’s potentially serious complications can be prevented by early therapy.

• Physical work capacity studied by measured physical loading in patients with hereditary hemochromatosis  Ter Arkh. 1989 [Article in Russian] A significant decrease of work fitness was revealed in 23 patients with verified diagnosis of hereditary hemochromatosis exposed to graded physical exercise.

• Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis.
  Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. College of American Pathologists Clin Chim Acta 1996 Feb. In view of the high prevalence in the American population (prevalence varies with ethnic background), the low cost of diagnosis and treatment, the efficacy of treatment if begun early, and, on the other hand, high costs and low success rate of late diagnosis and treatment, systematic screening for hemochromatosis is warranted for all persons over the age of 20 years.

• Preventing manifestations of hereditary haemochromatosis through population based screening.
  To evaluate the efficacy of identifying presymptomatic hereditary haemochromatosis through population based screening.  J Med Screen 1994 Jan

• Pro-oxidants and Singlet Oxygen: 
  HealthWorld Online,   Interview With Dr. Lester Packer, Interviewed By Richard A. Passwater Ph.D.
 
• Recognition and management of hereditary hemochromatosis.   Am Fam Physician 2002 Mar 1 65:853-60 Brandhagen DJ, Fairbanks VF, and Baldus W Mayo Medical School, Rochester, Minnesota, USA. The HFE gene test is useful in confirming the diagnosis of hereditary hemochromatosis, screening adult family members of patients with HFE mutations and resolving ambiguities concerning iron overload.

• Recognizing genetic hemochromatosis.  J La State Med Soc. 1994 Dec  This article reviews the disease process hemochromatosis, which is now recognized as one of the most common genetic disorders.  It is imperative that physicians learn to recognize early signs and symptoms of hemochromatosis so that treated patients can expect a normal life span with minimal medical intervention.

• Renal Transplantation and Evolution of Hemochromatosis:  A Clinical Case Report
  Despite being one of the world's most frequent autosomal recessive diseases, there are very few cases in the literature concerning hereditary hemochromatosis and renal transplantation. [a pdf file]

• Screening for Iron Overload due to Hereditary Hemochromatosis  
   CDC website, Reyes, Michele, PhD and Muin J. Khoury, MD, PhD,  National Center for Chronic Disease Prevention and Health Promotion  Identifying people early with evidence of iron overload represents a major chronic disease prevention opportunity.

• Severity of iron overload in hemochromatosis, effect of volunteer blood donation before diagnosis 
  Barton, Preston, McDonnell, Rothenberg   An effort was made to determine if volunteer blood donation before diagnosis decreases the severity of iron overload in persons with hemochromatosis.

• Should all patients with diabetes mellitus be screened for hemochromatosis?   Department of Family Medicine University of California, Los Angeles 924 Westwood Blvd, Suite 650 Los Angeles, CA 90095-1628  West J Med 2002;176:110-114  Enhanced case finding becomes the first stage in a public health response when evidence has emerged for an effective early treatment of a disorder. It means the detection of HHC at the time of early symptoms, and it allows patients to benefit from early phlebotomy.  The implementation of this approach would include adding fasting serum transferrin saturation to the usual workup of patients with newly diagnosed diabetes mellitus, arthritis, and impotence.  The CDC recommends such iron-overload testing in anyone with possible symptoms of hemochromatosis, which includes patients with newly diagnosed diabetes mellitus.

• Survival and causes of death in hemochromatosis.   Observations in 163 patients.
  Ann N Y Acad Sci. 1988  Life expectancy was reduced in patients who presented with cirrhosis or diabetes compared to patients who presented without these complications at the time of diagnosis. Patients who could be depleted of iron during the first 18 months of venesection therapy had a markedly better prognosis compared to those patients who could not be depleted during this time period.

• The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology. 1997 Jan The nonspecific nature of the presenting features in patients and the presence of significant clinical symptoms in patients discovered through family investigations underscore the importance of family and population screening for hemochromatosis.  The prevalence of cirrhosis, diabetes, cardiac disease, pigmentation, and fatigue increased as liver iron concentration increased. The most common presentations at diagnosis were fatigue

• The Roles of Iron in Health and Disease 
  [87pages, pdf file] Molecular Aspects of Medicine 22 [2001] 

• Weinberg, E.D. · Publications of Dr. E.D. Weinberg regarding iron and cancer.  Sue Gallant has  placed Dr. Weinberg's articles online here for us to read.  These are excellent & certainly worth the time to read them!  Titles included are: 
  Weinberg's Iron Loading and Disease Surveillance 
  Iron Therapy and Cancer (page 1 of 4) 
  Iron and Cancer ... a dangerous mix (Page 1 of 1) 
  Development of Clinical Methods... (Page 1 of 7) 
  The role of iron and cancer (Page 1) 
  

Click on this link to read about HH. Discussion of a liver biopsy is also here: 

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