Click on the title to find general information on HH.
hemochromatosis subjects: genotypic and phenotypic profiles
Blood, 1 December 2000, Vol. 96, No. 12, pp. 3707-3711; Ronald L.
Richard F. Raubertas,
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.
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.
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
Consequences of New Insights in the Pathophysiology of Disorders of Iron and
Heme Metabolism Hematology 2000
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.
features of genetic hemochromatosis in women compared with men.
Moirand R, Adams PC, Bicheler V, Brissot P, Deugnier Y
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.
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).
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]
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.
clinical spectrum and prognosis of hemochromatosis,
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
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]
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.
- 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.
have not been able to retrieve the url to the website from where this came, so
if anyone locates it, please let me know!]
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.
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 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.
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: Life Extension Foundation website.
Disease, Prevention & Treatment 3rd editon. Dietary & Vitamin
recommendations listed here including calcium for blocking of iron absorption.
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%.
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.
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)
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
3. outline screening and evaluation testing; and
4. provide accurate diagnosis, management, and treatment.
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.
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.
deficiency and overload in relation to nutrition
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.
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 Loading and Disease Surveillance
Eugene D. Weinberg Indiana University, Bloomington,
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
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.
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.
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.
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.
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.
guideline development task force of the College of American Pathologists.
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
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.
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.
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
Click on this link to read about HH. Discussion of a liver biopsy is also
to the "Munnsters" main Hemochromatosis page