Pilot Study Examining Mechanisms of Iron Trafficking and Extra-hepatic Iron Distribution in Sickle Cell Disease, Thalassemia, and Other Iron Loading Anemias
A detailed iron burden, transfusion and chelation history will be obtained from chart review
or from participant recall.
Iron burden data will include: 1) documentation of liver iron, and 2) average annual
Transfusion data will include: (1) age at onset of regular transfusions, (2) years of
chronic transfusion therapy, and (3) pre-transfusion Hb calculated as average of all
assessments for each year.
MRI will be performed measuring pituitary, cardiac, and liver iron.
Laboratory samples should be obtained pre-transfusion and mid-cycle.
All interviews, exams, laboratory tests, study procedures and MRI assessments should be
completed within a 0 to 12 weeks time span.
In addition, a healthy control group will also be recruited with similar age, gender, and
ethnicity as the disease groups.
Observational Model: Case Control, Time Perspective: Prospective
Pilot study of biochemical mechanisms of iron deposition in patients with Sickle Cell Disease, Thalassemia and Diamond-Blackfan Anemia.
To examine the hypothesis that a chronic inflammatory state in Sickle Cell Disease (SCD) leads to hepcidin- and cytokine-mediated iron withholding within the RES (reticuloendothelial system), lower plasma NTBI (non transferrin bound iron) levels, less distribution of iron to the heart in SCD, and finally lower uptake and enhanced export of NTBI by cardiomyocytes conditioned by SCD serum, when compared with similarly iron overloaded patients with beta thalassemia and diamond blackfan anemia.
March 2010 - August 2012
Elliott Vichinsky, MD
Children's Hospital & Research Center Oakland
United States: Institutional Review Board
|Children's Hospital & Research Center Oakland||Oakland, California 94609|