Joint Program in Transfusion Medicine -
Faculty

Contact information
Hematology-Fegan 703
Children's Hospital, Boston
300 Longwood Ave.
Boston, MA 02115
Phone: 617-355-7700

Education
MD, 1994, University of Massachusetts Medical School

Research Interests
My research and major clinical responsibilities are directed toward the care of pediatric patients with the hemoglobinopathy, thalassemia. As a researcher, I am part of the Thalassemia Clinical Research Network, a collaboration among five North American clinical centers. The Network collects routine clinical care baseline data on patients with thalassemia. Using these data, we are able to estimate the prevalence of thalassemia and its complications in North America and thus create clinical research trials directed towards treatment of the most common and debilitating complications of this disease in our patient population.

I am presently investigating the role of hepcidin in iron-overloaded thalassemia patients. it has been demonstrated that hepcidin, a small peptide hormone, is involved in anemia of chronic disease or anemia of inflammation. Hepcidin is a peptide that is cleaved from a larger precursor. It is produced by the liver and detectable in the serum and urine. Hepcidin expression is increased in response to inflammation and thus in anemia of chronic disease, markedly elevated levels of hepcidin ensue. Constitutive hepcidin expression prevented iron overload in a murine model of hemochromatosis, demonstrating that hepcidin may play a role in preventing pathologic iron overload. More recently, in other murine models hepcidin has been demonstrated to decrease gut absorption of iron. Conversely, animals that have inappropriately low levels of hepcidin develop hepatic iron overload. Hepcidin is markedly increased in some mouse models of iron overload, raising the possibility that it might be part of a compensatory mechanism to attempt to limit iron absorption. Together, these observations suggest that hepcidin may play a pathologic role in iron overload mediated by increased absorption.