This section is dedicated to Larry Dunn,
M.S., MT(ASCP)
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
Medical
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.
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 notmeet traditional phenotypic diagnostic criteria
but who have genotypesassociated with iron loading. Those with lower
degrees of ironoverload are less likely to be C282Y homozygotes.
Clinical
Consequences of New Insights in the Pathophysiology of Disorders of Iron and
Heme MetabolismHematology 2000The American
Society of Hematology The screening strategy could
be based on the assessment of serumtransferrin saturation in
adults aged 18 or more. Genetic testingtesting for C282Y would be
confined to individuals with transferrinsaturation > 45%. This
strategy would then avoid the ethical,logistical, and financial
problems raised by systematic genetictesting as well as the
societal impact of discovering a geneticmutation in asymptomatic
persons without a disease. It is,in fact, essential that major
changes occur in the attitudestowards unexpressed or slightly
expressed HFE homozygosity,especially by insurers and health care
administrators, to avoidany 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
liver enzymes
Common
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.
"Deironing
process" including the stages leading to iron deficiency from
notes of Larry Dunn
Diagnosis of hemochromatosis in young subjects: predictive accuracy of
biochemical screening tests
ML Bassett, JW Halliday, RA Ferris and LW Powell Gastroenterology,
Vol 87, 628-633, 1984 We conclude that the combination of
serum ferritin and transferrin saturation is a reliable screening regimen for
the detection of hemochromatosis and for predicting the level of body iron
stores in young hemochromatosis subjects.
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.
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]
Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of
diagnostic criteria.
Gastroenterology. 1998 Feb The
sensitivity of the phenotypic tests in decreasing order was as follows: serum
ferritin, hepatic iron index, transferrin saturation, and iron removed by
venesection. Although the genetic test is useful in the diagnostic algorithm,
this study has shown both iron-loaded patients without the mutation and
homozygous patients without iron overload.
Haemoglobin AIc in patients on venesection therapy for haemochromatosis [Article in French] Diabete Metab 1982 Jun Thus, the decreased HbAIc rates
observed in haemochromatosis patients may be ascribed to the venesection
therapy, which induces an increased turnover of red cells, and consequently a
decrease of the time available for their glycosylation.
Hemochromatosis: a review.Clin J Oncol
Nurs 2001 Nov-Dec;5(6):257-60Dolbey 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.
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%.
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: 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.
How
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
phlebotomy.
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
Iron Transport
Understanding the mechanisms behind iron transport
LIVER,
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.
Mild liver
enzyme abnormalities: eliminating hemochromatosis as cause.David
L. Witte Clinical Chemistry. 1997;43:1535-1538 Laboratory-initiated screening
programsusing
unsaturated iron-binding capacity can eliminate symptomatic hemochromatosis.
Detection of hemochromatosis
before development of cirrhosisor diabetes followed by removal of
iron by therapeutic phlebotomyis 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
Peripheral blood erythrocyte parameters in hemochromatosis: evidence for
increased erythrocyte hemoglobin content.
J Lab Clin Med. 2000 Jan
Barton JC, Bertoli LF, Rothenberg BE. Southern Iron
Disorders Center, We conclude that increased values of mean hemoglobin,
hematocrit, MCV, MCH, and MCHC in hemochromatosis probands are caused
primarily by increased iron uptake and hemoglobin synthesis by immature
erythroid cells. Mechanisms of iron uptake by erythrocytes that could explain
these results are discussed.
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.
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.
Sensitive method for nontransferrin-bound iron quantification by graphite
furnace atomic absorption spectrometry.
Clin Biochem. 2001 Feb NTBI results obtained from this
study indicate that the plasma iron pool in hemochromatosis patients awaiting
phlebotomy increases to a level at which transferrin's ability to bind iron
becomes exhausted and elevated NTBI levels appear in the serum. NTBI can
mediate the production of reactive oxygen species and may cause organ damage
associated with 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
malignant lymphomas.
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 90095-1628West J Med 2002;176:110-114 Enhanced
case finding becomes the first stage in a public healthresponse
when evidence has emerged for an effective early treatmentof a
disorder. It means the detection of HHC at the time ofearly
symptoms, and it allows patients to benefit from earlyphlebotomy.The implementation of this approach
would include adding fastingserum transferrin saturation to the
usual workup of patientswith newly diagnosed diabetes mellitus,
arthritis, and impotence. The CDC recommends such iron-overload testingin anyone with possible symptoms of hemochromatosis, which
includes patients with newly diagnosed diabetes mellitus.
THE
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
transplantation.
The
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
desired destination.
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 menstrualcycleaffect the
concentration or values of iron-statusindicators. These cyclicvariationsin
indicators of iron status are a potential source of error
when iron status is assessed in
large population surveys that include
womenof reproductive age.
A new syndrome of liver iron overload with normal transferrin saturation.
Lancet. 1997 Jan 11 We have
found a new non-HLA-linked iron-overload syndrome which suggests a link
between iron excess and metabolic disorders. The current diagnostic criteria
for genetic haemochromatosis should be reviewed.
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.
LABS, CLINICS, etc. that do the iron profile tests
and/or genetic testing.
Genetic HaemochromatosisSydPath:
The Institute of Laboratory Medicine, The
Pathology Service of St Vincent's Hospital Sydney, Australia
HealthCheck USA
Now you can order the same medically accepted lab tests ordered
by physicians, and analyzed by an accredited medical reference laboratory on
your own!! They offer the iron profile as well as the genetic testing
here.
Hereditary Hemochromatosis
The GeneTests-GeneClinics Laboratory
Directory listing of the laboratories that conduct clinical testing are shown.
Back
to the "Munnsters" main Hemochromatosis page