According to researchers at the NIH, iron overload in patients with thalassemia can be caused due to an overproduction of a protein called GDF15. This suppresses the production of a liver protein, hepcidin, which in turn leads to an increase in the uptake of dietary iron in the gut. This finding has implications for iron metabolism in other diseases and may contribute to the future development of therapies for thalassemia.
The study, led by researchers at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at the NIH, appears online August 26, 2007, as an Advanced Online Publication in the journal, Nature Medicine.
Thalassemia is an inherited blood disease characterized by the under production of normal hemoglobin, the oxygen-carrying protein in red blood cells. People with severe forms of thalassemia often suffer from anemia, a condition in which the body tissues do not get enough oxygen from the blood, and often require blood transfusions.
Blood transfusions contribute to iron overload in people with thalassemia, but these people also suffer from iron overload independent of blood transfusions. Excess iron causes damage to many organs including the heart and liver, and diabetes can develop in severe cases. Patients with thalassemia often require treatment to remove the excess iron to prevent tissue damage.
"The treatment of iron overload in patients with thalassemia is particularly difficult because of their anemia," says Jeffery L. Miller, M.D., chief of the Molecular Genomics and Therapeutics Section of the Molecular Medicine Branch, Division of Intramural Research, NIDDK, and last author of the study. "So we have been searching for the mechanism responsible for iron overload in thalassemia in hopes of finding new therapies for those patients."