Red Blood Cell 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 

Symptoms depend on the type of red blood cell (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

Most RBC disorders are caused by abnormalities or mutations in the blood. Medications and some medical conditions may also be a factor.

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, their doctor may order a variety of blood and genetic tests to confirm the diagnosis. After all tests are completed, doctors will be able to outline the best treatment options.

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

• Nutritional supplements (e.g. iron, folate, vitamin B12)
• 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

The long-term outlook for children with RBC disorders depends on the specific type of disorder. Many children with these diseases can be successfully treated. Certain disorders can increase the risk for damage or deficits to other organ systems (e.g. neurological deficits in polycythemia, or liver damage in hemochromatosis).

Children and teens with RBC disorders are treated through the Blood Disorders Center at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children's Hospital, a world leader in the treatment and research of all types of pediatric blood disorders.