LAB TESTS, DEFINITIONS, "NORMAL" RANGES, ETC.
This section is dedicated to Larry Dunn,
He has helped me & many others to learn more about HH, particular in the
interpretation of lab results. He has a great ability to explain things in a way
that is easier to understand! In this section you will find emails,
notes, &/or excerpts from my contact with Larry, which I think many will
continue to find helpful. Larry is a
Technologist as well as a a teacher of Medical Technology. His wife has
hemochromatosis. You can read his HH "story" in my "patient stories"
section of this HH website.
Click on the titles below to read more about lab tests,
meanings, etc. related to 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.
explanation of the function of this molecule by Larry Dunn.
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.
Clinical experience with early hemochromatosis
Tidsskr Nor Laegeforen. 1994 Jun [Article in Norwegian]
We conclude that fasting serum-iron and transferrin should be determined in
all subjects over 40 years of age and in patients with chronic elevation of
Laboratory Tests in Liver Diseases
Howard J. Worman, M. D. Division of Digestive and Liver Diseases
Departments of Medicine and of Anatomy and Cell Biology College of Physicians
& Surgeons Columbia University The
purpose of this page is to briefly describe some of the common laboratory tests
that may be abnormal in individuals with liver diseases.
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.
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]
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.
Transferrin saturation is the best laboratory assay to
detect the disease.
Hemochromatosis: Conemaugh Health System
Hemochromatosis is a condition that develops when too much iron builds up in
the body. Excess iron is stored in the organs, such as the kidneys, liver, and
heart, and in the joint tissues.
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%.
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.
Do I Know If I've Got Too Much Iron? "The
Protein Power Lifeplan" by Michael R. Edes, 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.
Idiopathic hemochromatosis: serum ferritin concentrations during therapy by
Clin Chem. 1982 Aug
Therapy involves mobilization and removal of excess stored iron through weekly
or twice-weekly phlebotomies of 500 mL, until the hemoglobin concentration
becomes less than 110 g/L and remains there for several weeks, or until serum
ferritin concentrations indicate that almost all the stored iron has been
removed (ferritin less than 12 micrograms/L).
Iron Status Assessment, stages of depletion, deficiency, anemia Spring
2001 [a pdf file] This is excellent for its description of the 3 stages
of decreasing iron levels. Even when describing IDA, it can be used by
the IO patient in learning more about assessing iron status.
Iron tests Explanation of the
various iron lab tests. Gale Encyclopedia of Medicine
GALL BLADDER, & PANCREAS
Thomas A. Godwin, M.D.Department of
Pathology 1995, Cornell University Medical College Descriptions
of various diseases affecting these organs as well as pathology slides.
MCV as a guide to phlebotomy therapy for hemochromatosis
Transfusion Med 2001 [a pdf file] The MCV is an inexpensive, precise,
physiologic indicator of erythropoetic iron availability. When used in
conjunction with the Hb, it is a clinically useful guide to the pace of
phlebotomy therapy for hemochromatosis.
- MCV explanation by Dr.
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.
Pathology 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.
Serum ferritin--a tumor marker in malignant lymphomas?
Onkologie. 1990 Apr; The serum ferritin
concentration followed closely the activity of the disease: Increased
pretreatment serum ferritin levels normalized completely, when patients
achieved complete remission. In contrast, in patients with tumor relapse or
tumor progression serum ferritin levels increased again. The data suggest that
the serum ferritin concentration can be used for follow-up of patients with
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.
EVALUATION OF ABNORMAL LIVER FUNCTION TESTS AND JAUNDICE
Carol Murakami, M.D.,
Richard Willson, M.D., and Susan Stover-Dalton, M.D. This discussion on the
evaluation of abnormal liver function tests relates to the overall
prevention of end stage liver disease and the consequent need for liver
laboratory assessment of iron status--an update
Clin Chim Acta 1997 Mar
The evaluation can now be carried out using the various blood assays along with
the measurement of haemoglobin concentration but interpretation of the
measurements in disease still requires an understanding of the way in which
these measures are influenced by pathological processes.
Understanding iron metabolism.
How Do you know if you are "deironed?" This is an email from Larry Dunn, where he attempts to discuss iron metabolism
in a way to help in the understanding of the lab tests used in diagnosis,
following the course of treatment, and knowing when you have arrived at the
Variations in iron-status measures during the menstrual cycle
American Journal of Clinical
Nutrition, Vol 58, 705-709, 1993. Our findings
suggest that the phases of the menstrual
cycle affect the
concentration or values of iron-status
indicators. These cyclic
indicators of iron status are a potential source of error
when iron status is assessed in
large population surveys that include
women of reproductive age.
HIGH FERRITIN, NORMAL TRANSFERRIN SATURATION
LOW or NORMAL FERRITIN, HIGH TS
LABS, CLINICS, etc. that do the iron profile tests
and/or genetic testing.
The Institute of Laboratory Medicine, The
Pathology Service of St Vincent's Hospital Sydney, Australia
The GeneTests-GeneClinics Laboratory
Directory listing of the laboratories that conduct clinical testing are shown.
here for a list of labs that offer DNA testing by PCR for adults/children
for hereditary hemochromatosis.
[U.S. & Canada only are listed here]
to the "Munnsters" main Hemochromatosis page