Treatment of Hemochromatosis
Hemochromatosis
About this trial
This is an interventional diagnostic trial for Hemochromatosis focused on measuring Phlebotomy Therapy, Hemochromatosis, Iron Overload, Hereditary Hemochromatosis, Blood Donation
Eligibility Criteria
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.
Sites / Locations
- National Institutes of Health Clinical CenterRecruiting
Arms of the Study
Arm 1
Other
1/HH patients
HH patients