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P.O. Box 3003
Dryden, ON P8N 2Z6
Phone: (807) 223-8264
Fax : (807) 223-7342
e-mail: [email protected]
Newsletter
2006-06
Hereditary Hemochromatosis
Definition:
Hereditary hemochromatosis is an autosomal recessive gene disorder characterized by increased and
inappropriate absorption of iron that results in tissue deposition and end organ damage. Approximately 5
people in 1,000 (0.5%) of the U.S. Caucasion population carry two copies of the gene and are
susceptible to developing the gene.
Goal:
The purpose of this guideline is to increase physician awareness of hereditary hemochromatosis
Indications:
Estimates of the prevalence of hereditary hemochromatosis in the general population vary widely
because no set criteria define what constitutes hereditary hemochromatosis. It is, however, more
commonly found in white men of northern European descent and older than 40 years of age. Fatigue,
arthralgias, and impotence are the most common symptoms of the disorder.
It is characterized by increased intestinal absorption of iron, with deposition of the iron in multiple organs.
Persons with hereditary hemochromatosis absorb only a few milligrams of iron each day in excess of
need. Therefore, clinical manifestations often occur only after 40 years of age, when body iron stores
have reached 15 to 40 g (normally, the body stores approximately 4 g of iron). Over time this excess iron
is deposited in the cells of the liver, heart, pancreas, joints and pituitary gland, leading to diseases such
as cirrhosis of the liver, liver cancer, diabetes, heart disease and joint disease.
Recommendations:
If hereditary hemochromatosis is suspected transferrin saturation and serum ferritin level should be
ordered to confirm the diagnosis of hereditary hemochromatosis.
Transferrin saturation determines how much iron is bound to the protein that carries iron in the blood.
Serum ferritin level is elevated in patients with hereditary hemochromatosis and correlates with liver iron
and development of cirrhosis. A transferrin saturation greater than 55% and serum ferritin level greater
than 200 µg/mL suggests an increased risk for hereditary hemochromatosis and the need for further
investigation
Newsletter
2006-06
Recommendations (continued):
A liver biopsy to measure hepatic iron concentration by staining is considered the gold standard to test for
hereditary hemochromatosis. However, with the advent of genetic testing, a liver biopsy is not widely used
to confirm the diagnosis.
There are two gene tests: the cheek test and the whole blood test. Hereditary hemochromatosis is
associated with mutations in the HFE gene. Between 60 and 93 percent of patients with the disorder are
homozygous for a mutation designated C282Y. 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.
Iron overload caused by hereditary hemochromatosis should be distinguished from overload secondary to
other entities. Secondary iron overload should be suspected in patients with chronic anemia, multiple
transfusions, prolonged iron supplementation, or chronic liver disease.
Management of hereditary hemochromatosis
THERAPEUTIC PHLEBOTOMY
Removal of 500 mL of blood every week
Check hemoglobin before each phlebotomy; defer for 1 week if anemic
Check serum ferritin after every 8 to 10 phlebotomies
Goal is a ferritin level of <50 µg/L and transferrin saturation <50%
Once achieved, continue phlebotomy every 3 to 4 months to maintain ferritin <50 µg/L
DIETARY THERAPY
Reduce ingestion of foods rich in iron (eg, organ meats)
Avoid iron supplements
Avoid vitamin C supplements
Minimize alcohol consumption; abstain if underlying liver disease
Regular tea drinking might reduce accumulation of iron
References:
1.
Clinical Guidelines: Screening for Hereditary Hemochromatosis: A Clinical Practice Guideline from the American
College of Physicians. Amir Qaseem, MD, PhD, MHA; Mark Aronson, MD; Nick Fitterman, MD; Vincenza Snow, MD;
Kevin B. Weiss, MD, MPH; Douglas K. Owens, MD, MS, for the Clinical Efficacy Assessment Subcommittee of the
American College of Physicians* 4 October 2005 | Volume 143 Issue 7 | Pages 517-521.
2.
Hemochromatosis More common than you think, Mark Ram Borgaonkar, MD, MSC, FRCPC, Canadian Family
Physician.
3.
Recognition and Management of Hereditary Hemochromatosis DAVID J. BRANDHAGEN, M.D., VIRGIL F.
FAIRBANKS, M.D., and WILLIAM BALDUS, M.D. Mayo Medical School, Rochester, Minnesota; American Family
Physician, March 1,2002
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Newsletter
2006-06
Acknowledgements:
Kenora-Rainy River Regional Laboratory Program, Inc. and its Managers have prepared this Newsletter.
It can also be found on our website www.krrrlp.ca
Dr. MacDonald would be pleased to discuss this perspective with you at his next onsite visit.
We’d like to hear from you!!
Was this article helpful? Are there other topics you would like information on?
Let us know by contacting your Laboratory Manager or,
Anna Robinson
Regional Laboratory Consultant
Kenora-Rainy River Regional Laboratory Program, Inc.
P.O. Box 3003, Dryden, ON P8N 2Z6
Phone: 807-223-8264 Fax: 807-223-7342
e-mail: [email protected]
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