Red blood cell (RBC) disorders

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.

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.

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.