Hereditary spherocytic anemia
Hereditary spherocytic anemia is a rare disorder of the surface layer (membrane) of red blood cells. It leads to red blood cells that are shaped like spheres, and premature breakdown of red blood cells (hemolytic anemia).
Congenital spherocytic hemolytic anemia; Spherocytosis; Hemolytic anemia - spherocytic
This disorder is caused by a defective gene. The defect 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 disorder may be found in early childhood. In mild cases it may go unnoticed until adulthood.
This disorder is most common in people of northern European descent, but it has been found in all races.
Other symptoms may include:
Exams and Tests
In most cases, the spleen is enlarged.
Laboratory tests can help diagnose this condition. Tests may include:
- Blood smear to show abnormally shaped cells
- Bilirubin level
- Complete blood count to check for anemia
- Coombs test
- LDH level
- Osmotic fragility or specialized testing to evaluate for the red blood cell defect
- Reticulocyte count
Surgery to remove the spleen (splenectomy) cures the anemia but does not correct the abnormal cell shape.
Families with a history of spherocytosis should have their children screened for this disorder.
Children should wait until age 5 to have 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.
The following resources can provide more information on hereditary spherocytic anemia:
- 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:
- Much lower red blood cell production (aplastic crisis) caused by a viral infection, which can make anemia worse
When to Contact a Medical Professional
Call your health care provider if:
- Your symptoms get worse.
- Your symptoms do not improve with new treatment.
- You develop new symptoms.
This is an inherited disorder and may not be preventable. Being aware of your risk, such as a family history of the disorder, may help you get diagnosed and treated early.
Gallagher PG. Red blood cell membrane disorders. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 45.
Merguerian MD, Gallagher PG. Hereditary spherocytosis. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 485.