Non-Therapeutic Protocol
GENIOS: Genes Influencing Iron Overload State
Type of Protocol/Clinical Study
Associated Hematology Studies, Supportive Studies: Genetics
Description
Iron overload, defined as too much iron in the body, may develop when someone has many blood transfusions, or because of inherited defects . Iron can build up in several organs in the body, such as the heart, liver, endocrine glands (pancreas, thyroid, etc.), and spleen. Too much iron can damage organs and may even cause death. Therefore, iron overload needs to be appropriately watched and treated to avoid unnecessary disease or death. Iron builds up differently in different people, and in different organs of the body. Some people build up iron faster than others, even when receiving the same number of blood transfusions.
This study will investigate whether genes have any influence on how much iron accumulates in the body, especially in the liver, heart, and other abdominal organs. We will also investigate if certain genes influence how iron exits the body.The duration of the study will be for six years.
Objectives
- This study will investigate whether certain gene mutations can make iron accumulate faster in the different organs of the body.
- This study will investigate whether certain gene mutations have any influence on how the body eliminates iron from different organs.
- This study will investigate how certain substances that help regulate iron in and out of the body are linked to how much iron accumulates in different organs.
Eligibility
- Patients who have iron overload from too many blood transfusions will be eligible for this study.
- Patients who are still receiving blood transfusions and patients who are not regularly receiving blood transfusion anymore, but still need treatment to remove blood from their bodies will be eligible for this study.
- The patient will not be eligible for the study if he/she has any known contraindication to performance of MRI.
Principal Investigator
Jane Hankins, MD, MS
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