NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

Studies of Phlebotomy Therapy in Hereditary Hemochromatosis

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

01-CC-0045

Sponsoring Institute

National Institutes of Health Clinical Center (CC)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 15
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Phlebotomy Therapy;
Hemochromatosis;
Iron Overload

Recruitment Keyword(s)

Hereditary Hemochromatosis;
Blood Donation;
Iron Overload

Condition(s)

Hemochromatosis

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

NIH Clinical Center

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 15 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 session

- Blood sample collection (about 2 tablespoons) every 1 to 2 weeks after iron stores have been depleted

- Phlebotomy every 8 to 12 weeks after iron stores are used up to prevent re-build up of excess iron

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 joint biopsy.

--Back to Top--

Eligibility

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 phlebotomy therapy.

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)

EXCLUSION CRITERIA:

Age less than 15 years.

Pregnancy.

Patients requiring therapeutic phlebotomy for reasons other than iron overload (polycythemia vera).

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.


--Back to Top--

Citations:

Celtic origin of the C282Y mutation of hemochromatosis

The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

Leitman SF, Browning JN, Yau YY, Mason G, Klein HG, Conry-Cantilena C, Bolan CD. Hemochromatosis subjects as allogeneic blood donors: a prospective study. Transfusion. 2003 Nov;43(11):1538-44.

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

Kathleen A. Cantilena, M.D.
National Institutes of Health Clinical Center (CC)
BG 10 RM 1C733F
10 CENTER DR
BETHESDA MD 20814
(301) 451-8637
ccantilena@mail.nih.gov

Yu Ying Yau, R.N.
National Institutes of Health Clinical Center (CC)
National Institutes of Health
Building 10
Room 1C711
10 Center Drive
Bethesda, Maryland 20892
(301) 435-3049
yyau@mail.cc.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00007150

--Back to Top--