Research & Innovation
Our Anemia and Red Blood Cell Disorders Program is led by Matthew Heeney, MD, an expert in pediatric hematology, who specializes in sickle cell disease and inherited disorders of iron deficiency, sideroblastic anemia and iron overload.
Our clinicians are conducting innovative research on anemias and red blood cell disorders through the following related programs. Select one from the list below for more information:
- Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic
- Sickle Cell Program
- Thalassemia Program
New developments in chronic anemia
Hemoglobin is a protein in red blood cells that helps them carry oxygen from the lungs to all parts of the body. Without enough hemoglobin, children experience anemia, which causes fatigue, pale skin, an increased heart rate and other symptoms ranging from mild to life-threatening.
In children with sickle cell disease, hemoglobin is defective, causing red blood cells to become stiff, sticky and shaped like the letter C. In thalassemia, the body’s ability to produce hemoglobin is also compromised. Both disorders can cause severe anemia.
Children’s Hospital Boston’s Stuart Orkin, MD, chairman of Pediatric Oncology, and Vijay Sankaran, now a resident at Children’s, identified a way to compensate for this problem: getting red blood cells to make another type of hemoglobin (HbF) that normally stops being made after birth.
Orkin and Sankaran discovered a gene that prevents HbF production. When they turned this gene off, cells began making HbF in large amounts.
Orkin and Sankaran are conducting further studies to figure out how to target this gene with medications. If a strategy is found, it could potentially transform sickle cell disease and thalassemia into benign or nearly benign conditions.
Legacy of excellence
Children’s has been a leader in developing new treatments for inherited anemias, such as sickle cell disease and thalassemia.
- David Nathan, MD, pediatrics and president emeritus, recognizes the important role of hypertransfusion in sickle cell disease
- Nathan and Richard Proper, MD, demonstrated effective iron chelation by subcutaneous pump deferoxamine (Desferal ®)
- Nathan and Stuart Orkin, MD, chairman of Pediatric Oncology, develop the first genetic test for prenatal diagnosis of thalassemia
- Nathan and Orah Platt, MD, Chief of the Department of Laboratory Medicine, use hydroxyurea to induce fetal hemoglobin production in patients with sickle cell disease.
- Carlo Brugnara, MD, director of the Hematology Lab, and colleagues, discover that the common antifungal drug, clotrimazole, prevents dehydration in red blood cells, a factor in sickle cell disease
- A recent study tested the effectiveness of a new oral iron chelator, deferasirox
- Orkin and Vijay Sankaran, MD PhD, identify a transcriptional regulator (BCL11A) critical for hemoglobin switching that could serve as a therapeutic target for hemoglobin disorders