Hereditary spherocytic anemia

This disease is caused by a genetic variation. The variant gene results in an abnormal red blood cell membrane. The affected cells have a smaller surface area for their volume than normal red blood cells, and can break open easily.

The anemia can vary from mild to severe. In severe cases, the disease may be found in early childhood. In mild cases, it may go unnoticed until adulthood.

This disease is most common in people of northern European descent, but it has been found in all races.

Infants may have yellowing of the skin and eyes (jaundice) and pale coloring (pallor).

Other symptoms may include:

• Fatigue
• Irritability
• Shortness of breath
• Weakness

In most cases, the spleen is enlarged and can be detected by your health care provider.

Lab tests can help diagnose this condition. Tests may include:

• Blood smear to show abnormally shaped cells
• Bilirubin level
• Complete blood count (CBC) to check for anemia
• Coombs test
• Lactate dehydrogenase (LDH) level
• Haptoglobin level
• Osmotic fragility or specialized testing to evaluate for the red blood cell defect
• Reticulocyte count

If the spleen is enlarged, surgery to remove it (splenectomy) cures the anemia but does not correct the abnormal cell shape.

Families with a history of spherocytosis should have their children checked for this disease.

Children should wait until age 5 to have a splenectomy because of the infection risk. In mild cases discovered in adults, it may not be necessary to remove the spleen.

Children and adults should be given a pneumococcal vaccine before spleen removal surgery. They also should receive folic acid supplements. Additional vaccines may be needed based on the person's history.

More information and support for people with hereditary spherocytic anemia and their families can be found at:

• Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis
• National Organization for Rare Disorders -- rarediseases.org/rare-diseases/anemia-hereditary-spherocytic-hemolytic/

The outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.

Complications may include:

• Gallstones
• Much lower red blood cell production (aplastic crisis) caused by a viral infection, which can rapidly make anemia worse

Contact your provider if:

• Your symptoms get worse.
• Your symptoms do not improve with new treatment.
• You develop new symptoms.

This is an inherited disease and may not be preventable. Being aware of your risk, such as a family history of the disease, may help you get diagnosed and treated early.

Congenital spherocytic hemolytic anemia; Spherocytosis; Hemolytic anemia - spherocytic

Gallagher PG. Hemolytic anemias: Red blood cell membrane and metabolic defects. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 147.

Gallagher PG. Red blood cell membrane disorders. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 46.

Prozora S, Gallagher PG. Hereditary spherocytosis. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 507.

Updated by: Warren Brenner, MD, Oncologist, Lynn Cancer Institute, Boca Raton, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.