Can metabolic substances in a person with thalassemia give a clue to how iron is loading in his/her heart? Farzana Sayani, MD, FRCPC, University of Pennsylvania, will be looking at that question in her project, “Metabolomics biomarker profiles to predict cardiac disease in transfusion-dependent beta-thalassemia.” Metabolites are metabolic substances, such as amino acids and vitamins. A “profile” of a person’s metabolites has been studied in non-thalassemic individuals; in these studies, a person’s metabolic profile has been shown to predict cardiac-related outcomes. Dr. Sayani will study metabolic profiles specifically in people with thalassemia and see what it might tell us about cardiac disease and cardiac iron.
Would moving the fetal hemoglobin gene cause it to create more fetal hemoglobin? Jeremy Rupon, MD, PhD, Children’s Hospital of Philadelphia is investigating this possibility in his project, “Augmenting γ-globin transcription via forced chromatin looping.” Using mice, Dr. Rupon will force the beta-globin gene to move closer to an element that is known to “activate” the gene. Will this result in the mouse creating a significant amount of fetal hemoglobin? We will be waiting to see what this study reveals to us.
http://www.thalassemia.org/caf-funds-375000-in-important-thalassemia-research-areas/
Earlier: Hematologist Dr. Farzana Sayani interviewed on International Thalassemia Day, Huffpost Live
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