CME, Medical resources, journals, research, hospitals, etc.
CME, studies, etc. for doctors and/or medical
Center for e-Learning and Telehealth (CELT)
Hemochromatosis Learning Program
Rebecca Laudicina, PhD, Department of Allied Health Sciences School of
Medicine, UNC-Chapel Hill
This program is designed to increase your knowledge of hereditary
hemochromatosis (HH)—the most common genetic disorder in the US. Many health
care providers are unaware of this fact, resulting in underdiagnosis of HH.
E-Learning initiatives within the Center for e-Learning and Telehealth
(CELT) provide technical and logistics expertise in education and
information technology. The Center is a catalyst and a resource for online
courses, telehealth initiatives and consultation in the use of Personal
Digital Assistants (PDA) in the healthcare environment.
A survey of 2,851 patients with hemochromatosis: symptoms and response to
Am J Med. 1999 Jun; McDonnell SM,
Preston BL, Jewell SA, Barton JC, Edwards CQ, Adams PC, Yip R.
Centers for Disease Control and Prevention, National Center for Chronic
Disease Prevention and Health Promotion, Division of Nutrition and Physical
Activity, Atlanta, Georgia 30341, USA. CONCLUSIONS: The diagnosis
of hemochromatosis in most patients was delayed. Physician education is needed
to increase the detection of patients with the disease and to improve its
DISEASES AND DISORDERS
PAGE PRESENTS AN OVERVIEW OF THE MOST COMMON BLOOD DISEASES AND BLOOD DISORDERS,
AND LINKS TO MORE INFORMATION.
Chemistry and biology of eukaryotic iron metabolism.
Int J Biochem Cell Biol. 2001 Oct
Department of Physiology and Biophysics, Albert Einstein College of Medicine,
1300 Morris Park Avenue, Bronx, NY A surprising connection between iron
metabolism and Friedreich's ataxia has been uncovered. It is no exaggeration
to say that the new understanding of iron metabolism in health and disease has
been explosive, and that what is past is likely to be prologue to what is
- CDC Search Results
List This search of the Centers for Disease Control site yields about
169 results with various information on Hemochromatosis.
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.
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.
(formerly GeneClinics), online publication of expert-authored genetic disease
reviews. International genetics Lab Directory, International genetics and
prenatal diagnosis Clinic Directory
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.
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.
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.
Elevated Hepatic Iron Index and End-stage Liver Disease
Hemochromatosis Gene Mutations in Chronic HCV Patients
Heterogeneity of Hemochromatosis in Italy
HFE Gene Expression
HFE Gene Mutations in Chronic Viral Hepatitis Patients
Phenotypic Expression of HFE Mutations
Screening for Hemochromatosis
Hereditary haemochromatosis: never seen a case?
Editorial. The British Journal of General Practice, Royal College of
General Practitioners. Early symptoms of HHC are frequently
non-specific, such as fatigue, arthralgia, and abdominal pain and only later
do features such as diabetes, impotence, cardiac failure, arrhythmias,
amennorhoea, and skin pigmentation develop. Consequently diagnosis is often
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.
HFE gene knockout
produces mouse model of hereditary hemochromatosis
Proc Natl Acad Sci U S A. 1998 Mar.
Xiao Yan Zhou,
Shunji Tomatsu, Robert E. Fleming, Seppo Parkkila,
Abdul Waheed, Jinxing Jiang, Ying Fei,
Elizabeth M. Brunt, David A. Ruddy, Cynthia E. Prass,
Randall C. Schatzman, Rosemary O'Neill, Robert S.
Britton, Bruce R. Bacon, and William S. Sly
The knockout mouse model of HH will facilitate
investigation into the pathogenesis of increased iron accumulation in HH and
provide opportunities to evaluate therapeutic strategies for prevention or
correction of iron overload.
Genetic Diseases E. Beutler, D. Balicki, L. Forman, T. Gelbart, C.
Halloran, E. Boas, P. Lee, C. West Division of Hematology About
82% of U.S. patients with hereditary hemochromatosis are homozygous for the
845A mutation of the gene HFE. HFE, the product of this gene, is a
class 1 MHC protein, and its role in regulating iron absorption is unknown.
We are attempting to answer a number of important but difficult questions
Human Lactoferrin: a Novel Therapeutic with Broad Spectrum Potential,
J. Pharmacy & Pharmacology 53: in press (2001
EUGENE D. WEINBERG,
of Biology and Program in
Medical Sciences, Indiana University,
A principal function of Lf is that of scavenging 'free' iron in fluids and
inflamed areas so as to suppress free radical-mediated damage and decrease
availability of the metal to invading microbial and neoplastic cells.
Intestinal expression of genes involved in iron absorption in humans. Am
J Physiol Gastrointest Liver Physiol 2002 Apr;282(4):G598-607
Rolfs A, Bonkovsky HL, Kohlroser JG, McNeal K, Sharma A, Berger UV, Hediger
MA. Membrane Biology Program and Renal Division,
Brigham and Women's Hospital, Harvard Medical School, Boston, 02115,
Massachusetts. The lack of appropriate downregulation of apical
and basolateral iron transporters in duodenum likely leads to excessive iron
absorption in persons with HHC.
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
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.
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.
- Regulation of
Expression of Iron Binding Proteins in the Nervous System,
James R. Connor, Ph.D., University of California,
Berkeley, 1981; Postdoctoral Training, Boston University School of Medicine,
1981-1983 The goal of this laboratory is to learn how the brain maintains an
appropriate balance and ready supply of iron and what happens to normal brain
function when an imbalance of iron occurs. Our research efforts are directed
at the proteins which regulate iron bioavailability. Our data had led to the
discovery that the brain's ability to mobilize iron is diminished in
Alzheimer's Disease and in specific regions of the brain in Parkinson's
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
Supplemental iron exacerbates aminoglycoside ototoxicity in vivo.
Conlon BJ, Smith DW. Division of Otolaryngology-Head and Neck Surgery, Duke
University Medical Center, Durham, NC These results provide further evidence
of the recently reported intrinsic role of iron in aminoglycoside ototoxicity,
and highlight a potential risk of aminoglycoside administration in patients
with elevated serum iron.
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."
of HFE Mutation Analysis for Hereditary Hemochromatosis:
Need for Physician Education in the Translation of Basic Science to Clinical
Practice 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
[a pdf file]
the Body Absorbs Too Much Iron
May Be More Common Than Once Thought, and Tests May Need a Bit of
Tailoring By Michael Smith, MD, Oct 15, 2001 McLaren's research team is
looking for more volunteers to be checked for iron overload in order to better
determine exactly how common this disorder is. If you are interested in
enrolling in this study at the University of California, Irvine, call (714)
to the "Munnsters" main Hemochromatosis page