Pros & Cons for routine population screening, newborn
Since HH is so easily treated & the outcome is best with an early
diagnosis, why are we still not doing routine testing for it? Routine
screening, beginning with all newborns, along with implementation of preventative measures, are desperately
needed for this condition! Insurance companies would surely find it more
cost-effective to include an iron profile in their screening programs & treat
iron overload in the early stages as opposed to a later diagnosis.
[It is obvious that I am totally FOR routine screening for HH, but you will also
find links here that represent the argument against it, so that you may form
your own opinion.]
Click on the title to read more on this topic.
A history of phlebotomy therapy for hemochromatosis. Crosby WH.
Chapman Cancer Center, Joplin, MO Am J Med Sci 1991 Jan The earlier
the disease is discovered, the less risk of morbidity and mortality.
Screening tests (serum iron, total iron-binding capacity, serum ferritin)
are recommended for all blood relatives of index cases of this hereditary
disease and for all clinics where complications of hemochromatosis may be
treated: liver disorder however mild, diabetes mellitus, heart disease,
arthropathies, sterility, impotence, premature menopause, and abnormal
pigmentation of the skin.
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.
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
Clinical 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
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.
Studies of Haemochromatosis Queensland
Institute of Medical Research, Hepatocellular Cancer Laboratory,
Professor Lawrie Powell Knowledge of haemochromatosis, its
prevention, the type and severity of symptoms it causes, the availability and
nature of treatment, ability of sufferers to participate in normal activities,
and longevity are relevant issues for community education. Members of an
informed public can mobilise support for the early diagnosis of
haemochromatosis, encourage people to be tested for the disorder and influence
the debate about screening.
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).
Diabetes mellitus in hemochromatosis Z
Gastroenterol. 1999 Jun [Article in German] The
degree of glucose intolerance and diabetes mellitus in hemochromatosis is
closely associated with the stage of iron overload and thus also the stage of
the accompanying liver disease. Similar to other liver diseases glucose
intolerance due to insulin resistance precedes diabetes mellitus also in
Diagnosis and management of
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]
and management of precirrhotic hemochromatosis
Gushurst TP, Triest WE. Department of Pathology, Cabell Huntington
Hospital, West Virginia. W V Med J 1990 Mar Three cases of hemochromatosis
in the precirrhotic stage of the disease are presented. The pathophysiology,
clinical and laboratory features and management are discussed. The high gene
frequency in the general population warrants routine screening tests in
asymptomatic healthy young adults.
Diagnosis and treatment of genetic hemochromatosis
Rev Prat. 2000 May 1 [Article in French]
Moirand R, Guillygomarc'h A, Brissot P, Deugnier Y. The disease can be
lethal due to liver disease, carcinoma or heart disease, but life expectancy
goes to normal if patients are treated before the occurrence of cirrhosis.
Treatment relies on regular venesections. Familial screening is essential.
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.
Conditions in Relatives of Patients with Hemochromatosis
Zaneta J. Bulaj, M.D., Richard S. Ajioka, Ph.D., John D. Phillips, Ph.D.,
Bernard A. LaSalle, B.S., Lynn B. Jorde, Ph.D., Linda M. Griffen, B.A.,
Corwin Q. Edwards, M.D., and James P. Kushner, M.D. Volume
343:1529-1535 November 23, 2000 Number 21 In
conclusion, our data emphasize the importance of screening relatives
of persons with hemochromatosis.
liver disease without hemochromatosis associated with elevated hepatic iron
J Hepatol. 1998 Aug;29 Cotler SJ, Bronner MP, Press RD, Carlson TH, Perkins JD,
Emond MJ, Kowdley KV. Department of Medicine, University of Washington,
Seattle, USA. (i) Serum transferrin saturation and hepatic iron index lack
specificity for hereditary hemochromatosis in end-stage liver disease. (ii)
Genotyping for Cys 282 Tyr may provide the best method to identify hereditary
hemochromatosis in the setting of end-stage liver disease.
DIAGNOSES: A case of Hereditary Hemochromatosis with dilated
micronodular cirrhosis, history of chronic alcoholism from Department of
Pathology, University of Pittsburgh School of Medicine.
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]
Haemochromatosis and HFE gene.
Gastroenterol Belg. 1999 Oct-Dec The practical
management of haemochromatosis has been greatly modified, since liver biopsy
is no more necessary for diagnosis in C282Y homozygotes, and is only needed
for exclusion of cirrhosis. Family screening has also greatly benefited from
Haemochromatosis as an endocrine cause of subfertility.
BMJ 1998;316:915-916 ( 21 March )
Clinical review. Lesson of the week. Haemochromatosis is
well established as a cause of infertility in both men and women, usually
because iron deposition in the pituitary or the gonads leads to
hypogonadism. As haemochromatosis is a fairly common disorder
it should be considered when subfertility from an endocrine
disorder is being investigated.
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.
Powell LW, Yapp TR Clin Liver Dis 2000 Feb: It is now
apparent that iron, even in the modest tissue concentrations, can act as a
co-factor in potentiating cell injury in other liver diseases.
- Hemochromatosis, A simple genetic trait,
Dr. 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.
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.
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.
in Ireland and HFE. Blood Cells Mol Dis. 1998 The allele
frequency of 14% for the C282Y mutation in our control population is the
highest reported and supports the hypothesis of a Celtic origin for the
hereditary hemochromatosis gene.
Special American Liver Foundation newsletter, ALF Progress,
Vol. 21 No. 1, Summer 1999 The ALF newsletter created three scenarios based on
the real life ethical, economic and medical quandaries posed by hemochromatosis,
and asked three experts from divergent fields to respond with their opinions.
The experts are: Bruce R. Bacon, MD [Director, Div. of Gastroenterology &
Hepatology, Saint Louis University School of Medicine, St. Louis, M0]; medical
ethicist Mark A. Rothstein, Esq. [Director, University of Houston Law Center,
Health Law & Policy Institute, Houston, TX] and hemachromatosis patient
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.
Hereditary hemochromatosis in children, adolescents, and young adults.
Am J Pediatr Hematol Oncol. 1988 Spring
Young individuals who should be screened for iron
overload include patients with cardiac myopathies, hypogonadism, amenorrhea,
loss of libido, diabetes mellitus, other endocrine disorders, cirrhosis of the
liver, and arthritis, as well as the siblings, parents, and children of
patients with hereditary hemochromatosis or iron loading of unknown cause.
J Fam Pract, 44(3):304-8 1997 Mar Hereditary
hemochromatosis is a genetic disorder of iron metabolism that has an excellent
prognosis if diagnosed early.
hemochromatosis Rev Med Interne 2000 Nov At present, any patient
admitted with an isolated case of asthenia, or with arthralgia or
hypertransaminasemia should be examined via transferrin-saturation testing: if
the transferrin saturation coefficient is > 45%, then the presence of the
C282Y mutation should be investigated to confirm the diagnosis of
hemochromatosis. A liver biopsy is no longer necessary to establish the
High incidence of blood disease in Irish babies
Irish Medical Times April 14, 2000 Routine genetic testing of newborn babies
may be warranted because of the high incidence of a serious blood disease in
the Irish population. Dr John Crowe,
gastroenterologist at the Centre for Liver Disease, Mater
Hospital said that one in 86 Irish babies are genetically predisposed to
haemachromatosis, which is the highest incidence in the world.
Inherited iron overload.
Acta Paediatr Scand Suppl. 1989 Several inherited forms
of iron overload have been described. It is now accepted that HC, usually
regarded as a disease of adult life, is an inherited disorder, hence all first
degree relatives must be presumed to be at increased risk of developing iron
overload and the diagnosis is now frequently made in young relatives. The
combination of serum iron, transferrin saturation and serum ferritin
determination will detect iron overload in an early, precirrhotic stage
and colorectal cancer risk: human studies Nutr Rev 2001 May
Because iron is broadly supplemented in the American diet, the benefits of iron
supplementation need to be measured against the long-term risks of increased
iron exposure, one of which may be increased risk of colorectal cancer.
catalyzed oxidative damage, in spite of normal ferritin and transferrin
saturation levels and its possible role in Werner's syndrome, Parkinson's
disease, cancer, gout, rheumatoid arthritis, etc.
Med Hypotheses 2000
Sep the disease is often overlooked by physicians, until several organs have
been damaged permanently (heart, liver, brain, pancreas, kidneys, spleen, etc.).
Moreover, since ferritin, transferrin saturation and hematocrit levels are not
directly related to cellular iron levels, and since excess iron can wreak havoc
in the cell, we can conclude that there is a need for a better way to evaluate
intracellular iron levels and especially the intracellular free iron levels by a
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 and public health
Bull Acad Natl
Med. 2000 Genetic hemochromatosis, due to its
frequency (about 300,000 cases in France) and to its severity, must be
considered as a public health burden. Its curability--insofar as its diagnosis
has been made early--and the disposal of non invasive and reliable phenotypic
(transferrin saturation) and genotypic (HFE C282Y mutation) tests make its
Overload Disease due to Hereditary Hemochromatosis CDC website, National Center for Chronic Disease
Prevention and Health Promotion. Early detection and treatment for
this genetic condition can lessen morbidity and mortality, and in some cases
prevent the onset of disease. Therefore, early detection of hemochromatosis
represents a major chronic disease prevention opportunity.
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
Iron: 'Too Much Is A
Problem' by Joseph B. Verrengia [News Science Writer]
High levels of
iron, already considered to be a major risk factor in heart attacks, are being
implicated in the progression of AIDS, Lou Gehrig's disease and cancer.
"Iron will be the cholesterol of the 1990s," McCord predicts, ". . .most
people don't know their iron status."
hemochromatosis a risk factor for Alzheimer’s disease?
of Alzheimer's Disease
Volume 3, Number 5, October
2001 Pages 471-477 J. R.Connor, E. A. Milward, S. Moalem,
M. Sampietro, P. Boyer, M. E.Percy, C. Vergani, R. J. Scott, M. Chorney
by Paolo Zatta)
Long-term survival analysis in hereditary hemochromatosis.
Gastroenterology. 1991 Aug Early
diagnosis and treatment of hemochromatosis in the precirrhotic stage can lead
to long-term survival similar to that in the general population. The presence
of cirrhosis significantly increases mortality and is the major clinical
factor affecting survival.
survival in patients with hereditary hemochromatosis Gastroenterology, Vol 110, 1107-1119, 1996 by American Gastroenterological
Association Prognosis of hemochromatosis and most of its
complications, including liver cancer, depend on the amount and
duration of iron excess. Early diagnosis and therapy largely
prevent the adverse consequences of iron overload.
a Difference in Genetic Disease
ONE NUMBER TWO Ernest Buetler M.D. It will be the largest such
screening study ever undertaken. The NIH and the CDC have provided funding
of more than $4,000,000 for these clinical studies and the basic studies of
iron metabolism that will be performed in the Beutler laboratory.
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.
The clinical and radiologic presentations of the arthropathy of
hemochromatosis have been extensively reviewed. Screening for the disease
appears important, because it is the only way to prevent progressive worsening
of organ involvement and arthropathy in particular. Curr Opin Rheumatol 1994
enzyme abnormalities: eliminating hemochromatosis as cause.
L. Witte Clinical Chemistry. 1997;43:1535-1538 Laboratory-initiated screening
unsaturated iron-binding capacity can eliminate symptomatic hemochromatosis.
Detection of hemochromatosis
before development of cirrhosis or diabetes followed by removal of
iron by therapeutic phlebotomy is associated
with length and quality of life identical to age-matched controls.
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,
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.
Cases for Diagnosis: A 37 year old male is referred to the liver clinic
for evaluation of abnormal liver related enzymes. Includes pictures of
biopsy slides. Case 96-19: Liver II Contributed by D. Robert Dufour, M.D., CAPT,
MC, USNR-R Date Available: July 22, 1996 - December 31, 1996
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
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.
Refractory heart failure in a 26-year-old woman with idiopathic
Rev Port Cardiol. 1994 Oct In this paper, we report a case of a young
woman with a eight years evolution of amenorrhea, cardiac failure, diabetes
mellitus and increased pigmentation of the skin, associated with biochemical
markers of iron overload. It is emphasized that hemochromatosis most be
excluded in all patients with a unexplained cardiac failure.
for genetic haemochromatosis in blood samples with raised alanine
Gut 2000;46:707-710 ( May )
for hemochromatosis At the present time, we believe that further
data regarding both the exact disease burden and the outcomes of screening
studies particularly in the general community are required before widespread
population screening is introduced. Clin Chim Acta 2002 Jan
for hemochromatosis: high prevalence and low morbidity in an unselected
population of 65,238 persons
Scand J Gastroenterol 2001 Oct
for Hereditary Hemochromatosis in Siblings and Children of Affected Patients
A Cost-Effectiveness Analysis Hashem B. El-Serag, MD,
MPH; John M. Inadomi, MD; and Kris V. Kowdley, MD
Annals of Internal Medicine, 15
February 2000 Volume 132 Number 4.
HFE gene testing for the C282Y mutation is a cost-effective method of
screening relatives of patients with hereditary hemochromatosis.
hereditary haemochromatosis should be implemented now.
BMJ 2000;320:183 ( 15 January ) We believe that to benefit
all those at risk there is an ethical imperative to implement screening
for the major mutation causing haemochromatosis now, rather than
wait years for confirmation of what is currently known that at
least half of those with the predisposing genotype will develop some
form of the disease.
for Iron Overload due to Hereditary Hemochromatosis
CDC website, Reyes, Michele, PhD and Muin J. Khoury, MD, PhD,
Center for Chronic Disease Prevention and Health Promotion Identifying
people early with evidence of iron overload represents a major chronic
disease prevention opportunity.
Screening Newborns for Genetic Disease Helps Parents By Anne Harding
NEW YORK (Reuters Health) -Dec. 7, 2000 Screening newborns for
hemochromatosis is effective, practical, and can save their parents' lives,
according to French researchers who have developed a program for identifying
infants with this common and potentially fatal genetic disease. [no
longer available online]
Should we genetically test everyone for haemochromatosis?
J Med Ethics. 1999 Apr
This paper will identify and discuss key issues regarding
DNA-based population screening for haemochromatosis, and argue that
population-based genetic screening for haemochromatosis should be supported
when a number of contentious issues are addressed
Study aims to create consensus on iron overload test A Kaiser
Permanente unit and four other centers will split $30 million to assess who
needs to be screened for the common defect Wednesday, June 27, 2001. By
Oz Hopkins Koglin of The Oregonian staff. Comments by Sandra
articular damage of hemochromatosis. A little known aspect Recenti Prog
Med 1999 Apr The aim of this report is to underline that the patients with
premature osteoarthritis or unexplained chondrocalcinosis must be screened for
genetic haemochromatosis in order to formulate the correct diagnosis before the
development of severe internal organ involvement
The challenge of integrating genetic medicine into primary care.
BMJ. 2001 Apr 28 Population screening for hereditary
haemochromatosis has been promoted because of the relatively high prevalence
of mutations in the HFE gene that cause the disease and because
there is effective treatment through regular phlebotomy.
The diagnosis of hemochromatosis in the era of the gene
Ann Endocrinol (Paris). 1999 Sep [article in French]
The discovery of the hemochromatosis gene has deeply changed
and simplified the diagnosis of the disease. In a given individual,
establishing the diagnosis relies, from now on, on a simple blood sample
showing the couple: elevated transferrin saturation and homozygous C282Y
mutation (= C282Y +/+). Liver biopsy should only be performed when iron
overload is massive in order to detect cirrhosis (or bridging fibrosis), i.e.
in a prognostic view.
effect of HFE mutations on serum ferritin and transferrin saturation in the
Jersey population Br J Haematol 1998 May
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 significance of haemochromatosis gene mutations in the
general population: implications for screening.
Gut. 1998 Dec HFE
mutations are present in 38.4% of the population, affect serum iron indexes,
and are important determinants of iron status. The population frequency of
genetically defined haemochromatosis (C282Y homozygosity) is approximately one
in 200 and is higher than the prevalence of clinically apparent
much iron can be dangerous
By Andreas von Bubnoff Staff Writer
New University Newspaper. According to Gordon McLaren, this
hemochromatosis study is the first trial of large-scale genetic screening,
at least in adults. Thus, results of the study may also have an impact on
future legislation regulating genetic screening, he said. "The problem
is the disease is silent until something goes wrong," Gordon McLaren
said. "So you need to be checking people [for the disease] before they
have any problems."
on hereditary hemochromatosis and the HFE gene.
Brandhagen DJ, Fairbanks
VF, Batts KP, Thibodeau SN. Division of Gastroenterology and Hepatology and
Internal Medicine, Mayo Clinic Rochester, Minn 55905, USA. Mayo Clin Proc 1999
of HFE Mutation Analysis for Hereditary Hemochromatosis:
Need for Physician Education in the Translation of Basic Science to Clinical
Manish Kohli, MB, ChB, Steven A. Schichman, MD, PhD, Louis Fink, MD, Clive
S. Zent, MB, BCh, Department of Internal Medicine, Division of
Hematology/Oncology and the Department of Pathology, John L. McClellan Memorial
Veteran's Hospital and University of Arkansas for Medical Sciences, Little Rock.
Southern Medical Journal
new in hemochromatosis.
Curr Opin Hematol 2001 Mar The high
correlation of HFE to HHC has caused it to be considered as a candidate gene for
population-based genetic testing for diagnosis and detection of predisposition
Will Your Genes Prevent
You From Getting Health Insurance? St. Louis
University News Release October 13, 2000 "People may be reluctant to
take advantage of genetic tests that could save their lives," Dr. Bacon said.
"In hemochromatosis, for example, symptoms usually do not appear until between
40 and 60 years of age. By then, the patient may have already sustained
serious liver damage. Early detection is essential. No one should be afraid to
seek information to make educated choices regarding their health."
Click on this link to read about HH. Discussion of a liver biopsy is also
to the "Munnsters" main Hemochromatosis page