Red Blood Cell (RBC) Disorder

Red blood cell (RBC) disorders are conditions that affect red blood cells, the cells of blood that carry oxygen from the lungs to all parts of the body. There are many different types of red blood cell disorders, including:

• Anemia
• Red cell enzyme deficiencies (e.g. G6PD)
• Red cell membrane disorders (e.g. hereditary spherocytosis)
• Hemoglobinopathies (e.g. sickle cell disease and thalassemia)
• Hemolytic anemia
• Nutritional anemias (e.g. iron deficiency anemia, and folate deficiency)
• Disorders of Heme production (e.g. sideroblastic anemia)
• Polycythemia (too many red blood cells)
• Hemochromatosis
• Red Blood Cell Disorder Treatment
• Patients with RBC disorders are treated through our Sickle Cell Program, Thalassemia Program, or our Rare Anemias & Iron Disorders Program. Continue reading to learn more about anemia or visit these program homepages to learn about our expertise and treatment options for these conditions.

Red Blood Cell (RBC) Disorder Symptoms & Diagnosis

Symptoms depend on the type of RBC disorder a child has. Some common general symptoms of anemia include:

• Pale lips, skin and hands
• Fatigue
• Lack of energy
• Decreased exercise tolerance
• Irritability
• Common symptoms of hemolysis (increased red blood cell breakdown) include:
• Jaundice
• Scleral icterus (yellow eyes)
• Enlarged spleen
• Gallstones

RBC disorders may be suspected based on the general findings of a complete medical history and physical exam. Depending on the type of RBC disorder a child has, her doctor may order a variety of blood and genetic tests to confirm the diagnosis.

Red Blood Cell (RBC) Disorder Treatment & Care Options

Treatment largely depends on the specific type of RBC that is present and may include:

• Nutritional supplements (e.g. iron, folate, vitaminB12)
• Splenectomy – surgical removal of the spleen
• Medications to alter the immune system (e.g. corticosteroids, intravenous immunoglobulin)
• Hydroxyurea therapy for sickle cell disease.
• Blood transfusions

After all tests are completed, doctors will be able to outline the best treatment options.