Dr. Fertrin’s research aims to understand the pathophysiology of iron overload, its consequences to different organs, and to investigate new therapeutic approaches to prevent and treat excess body iron.
Originally starting his career in Brazil, Dr. Fertrin’s early interest in genetics led him to study the clinical aspects and molecular biology of not only more prevalent disorders in his home country, such as sickle cell disease and thalassemia, but also very rare entities, such as aceruloplasminemia. His previous research reported on how iron metabolism regulation varies depending on the underlying defect in erythropoiesis (Fertrin et al., Am J Hematol 2014), and on the spectrum of tissue iron overload across different disorders, affecting most frequently the liver, but also more rarely the brain (Borges et al., Am J Neuropsych 2019) and the heart (Tavares et al., Transfus Med Rev 2019). In clinical research, he participated in the design and execution of the first clinical trials to demonstrate the effectiveness of adjuvant amlodipine to improve iron chelation in patients with transfusion-dependent thalassemia (Fernandes et al., Am J Med 2013 and Blood 2016).
One of Dr. Fertrin’s current research projects focuses on iron metabolism dysregulation in patients undergoing hematopoietic cell transplantation (HCT). High ferritin levels have been associated with increased longterm morbidity and mortality even many years after HCT. The goal is to understand how iron affects patients post-HCT to develop evidence-based recommendations for the diagnosis, treatment and monitoring of iron overload in this patient population. In addition, Dr. Fertrin is initiating clinical trials of a novel medication that can reduce anemia and iron overload in pyruvate kinase deficiency, and is interested in novel therapeutic strategies that can mitigate the need for red blood cell transfusions or improve tissue iron removal in patients with iron overload.