Red Blood Cell Disorders and Thrombotic Microangiopathy Program

Red blood cells (RBCs) are the most common type of blood cell in the body. When your body creates less-than-average amount of healthy red blood cells, it can lead to a disorder called ‘anemia.’ When you have anemia, your body cannot provide enough oxygen-rich blood to your body’s organs. This lack of oxygen can make you feel tired, dizzy or cause shortness of breath. RBC disorders can be caused by a genetic mutation, nutritional deficiency, an antibody that can attack one’s own blood cells, medications or other unclear causes.

What are the different types of red blood cell disorders commonly found in children?

• RBC enzyme and membrane disorders (e.g. pyruvate kinase deficiency, spherocytosis, xerocytosis),
• Autoimmune hemolytic anemia
• Nutritional anemias (e.g. iron, vitamin B12 deficiency)
• Iron disorders (hemochromatosis, iron refractory iron deficiency anemia)
• Other rare RBC disorders (congenital dyserythropoietic anemia, sideroblastic anemia, porphyria, polycythemia)

Thrombotic microangiopathy (TMA) is a group of disorders with some common signs and symptoms. TMA is a rare but serious (and potentially life-threatening) condition affecting the body’s small blood vessels. They often present with anemia, low platelets, and high risk of organ damage from microthrombi (small blood clots) within small blood vessels. Some of these disorders include paroxysmal nocturnal hemoglobinuria (PNH), atypical hemolytic uremic syndrome (aHUS), thrombotic thrombocytopenic purpura (TTP), transplant-associated TMA (TA-TMA).

How Do We Treat RBC or TMA Disorders in Children?

• Diagnosis: Given the rarity of many RBC and TMA disorders, as well as many ways these disorders can be observed, accurate diagnosis can be challenging. We offer cutting-edge research-based diagnostics for rare blood disorders.
• Comprehensive care: We offer a team approach for detailed evaluation of each patient and family member’s blood, including review of blood, bone marrow and radiographic imaging (if applicable). Additionally, we use a variety of techniques, such as RBC rheology, oxygen equilibrium curves, hemolysis assays, complement analyses, and genetic testing to aid in the diagnosis and monitoring of the disease.
• Research and Clinical Trials: The program is enhanced by exceptional bench, clinical and translational research so that novel developments discovered in research are translated into medical practice quickly and efficiently. We foster cooperation through institutions, consortium and industry for the development of innovative diagnostics, patient registry and clinical trials. Being one of the major international clinical trial sites for rare anemias, we offer opportunities for children and young adults to participate in clinical trials and help advance the field.
• Education: We provide information and resources for patients and families with rare disorders, facilitate inter-professional consultations and continuous medical education through our institutions, consortiums and foundations.
• Learn more about Aplastic Anemia
• Learn more about Thrombotic Microangiopathy

What are the treatment options?

• Medicine: Our doctors may prescribe nutritional supplements or medications to increase hemoglobin or support the immune system (steroids, complement inhibitors).
• Blood products: The process through which a person receives donated blood, including red blood cell, plasma, platelet transfusions or intravenous immunoglobulin.
• Innovative treatments: We offer some of the most promising new treatments for children with RBC or TMA disorders.

We are currently enrolling patients in clinical research trials

Our team of doctors and nurses at Children's can help you find a trial that's right for your child. You can also search online by visiting clinicaltrials.gov. Search for "Children's Healthcare of Atlanta" and your child's condition.

What to Know About Participating in a Clinical Trial >

• Satheesh Chonat, MD, Director, Hematologist
• Michael Briones, DO, Hematologist
• Sara Graciaa, MSN, CPNP, Pediatric Nurse Practitioner
• Michelle Schoettler, MD, Bone Marrow Transplant Physician
• Grace Fong, PhD, ABPP, Neuropsychologist
• Gabrielle Dean, MPH, CCRP, Team Lead Clinical Research Coordinator 

Excellence and Innovation in Pediatric Blood Disorders Research

The Aflac Cancer and Blood Disorders Center is committed to excellence and innovation in pediatric research. As Georgia’s top pediatric cancer and blood disorders research center, we are home to one of the largest clinical trial programs in the country, offering our patients access to some of the most novel childhood cancer and blood disorders treatments available.