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Studies of Phlebotomy Therapy in Hereditary Hemochromatosis
This study is currently Recruiting
August 2011 By National Institutes of Health Clinical Center (CC)
First Recieved on December 9, 2000
Last Updated on September 2, 2011
This study will evaluate the effectiveness of a test called MCV in guiding phlebotomy (blood
drawing) therapy in patients with hemochromatosis-an inherited disorder that causes too much
iron to be absorbed by the intestine. The excess damages body tissues, most severely in the
liver, heart, pancreas and joints. Because iron is carried in the hemoglobin of red blood
cells, removing blood can effectively lower the body's iron stores.
Patients with hemochromatosis undergo weekly phlebotomy treatments (1 pint per session) to
deplete iron stores. This usually requires 10 to 50 treatments, after which blood is drawn
every 8 to 12 weeks to prevent a re-build up of iron. A test that measures ferritin - a
protein involved in storing iron - is commonly used to guide phlebotomy therapy in
hemochromatosis patients. This study will compare the usefulness of the ferritin test with
that of MCV, which measures red blood cell size, in guiding phlebotomy therapy. In
addition, the study will 1) examine whether keeping iron levels low during maintenance
therapy can help heal severe liver disease and improve arthritis in affected patients, and
2) design a system for making blood collected from hemochromatosis donors available for
transfusion into other patients.
Patients 21 years and older with diagnosed hemochromatosis or very high iron levels
suggesting possible hemochromatosis may be eligible for this study. Candidates will have a
history, physical evaluation, review of medical records and blood tests, and complete a
symptoms questionnaire. Participants will have the following procedures:
- Phlebotomy therapy every 1 to 2 weeks, depending on iron levels
- Blood sample collection for blood cell counts and iron studies at every phlebotomy
- Blood sample collection (about 2 tablespoons) every 1 to 2 weeks after iron stores have
- Phlebotomy every 8 to 12 weeks after iron stores are used up to prevent re-build up of
With each blood donation that will be made available for transfusion to other patients,
participants will answer the same health history screening questions and undergo the same
blood tests given to all regular volunteer blood donors. These include screening for the
HIV and hepatitis viruses and for syphilis.
Patients who meet height and weight requirements may be asked to consider "double red cell"
donations using apheresis. In this procedure, whole blood is collected through a needle
placed in an arm vein, similar to routine phlebotomy. The blood then circulates through a
machine that separates it into its components. The red cells are removed and the rest of
the blood is returned to the body, either through the same needle or through a second needle
in the other arm. Patients who have very high iron levels or an enlarged liver will be
offered evaluation by the NIH Liver Service. Those judged to be at increased risk for
cirrhosis may be advised to undergo a liver biopsy. If cirrhosis is found, the patient will
be asked to consider a repeat biopsy after 3 to 5 years of continuous iron depletion to see
if scarring has improved. Patients with arthritis will be offered evaluation by the NIH
Arthritis Service and, depending on symptoms, may be advised to have X-ray studies or a
Resources/Links provided by NLM:
|Study Start Date:
|Estimated Primary Completion Date:
|Ages Eligible for Study:||15 Years|
|Genders Eligible for Study:||Both|
|Accepts Healthy Volunteers:||No|
- INCLUSION CRITERIA:
Confirmed diagnosis of HH, defined by the following HFE genotypes: C282Y/C282 or
C282Y/H63D. Up to 50 percent of the total study population may have received prior
Elevated transferrin saturation and/or ferritin level, but diagnosis of HH not yet
confirmed by genotype or liver biopsy.
Elevated transferrin saturation and/or ferritin level without genotype findings listed
above, but with elevated hepatic iron index on liver biopsy.
Family member screening (unknown HH phenotype or genotype)
Age less than 15 years.
Patients requiring therapeutic phlebotomy for reasons other than iron overload
Patients with iron overload not due to HH (e.g. hepatitis C infection, porphyria cutanea
tarda, Wilson's disease, alpha-1-antitrypsin deficiency, alcohol abuse).
Other medical illness or condition which, in the opinion of the Investigators, may
contraindicate participation due to risk to patient or to Donor Center.