Hereditary spherocytic anemia
Congenital spherocytic hemolytic anemia; Spherocytosis; Hemolytic anemia - spherocyticHereditary 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).
Hemolytic anemia
Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Normally, red ...
Read Article Now Book Mark ArticleCauses
This disorder 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 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.
Symptoms
Infants may have yellowing of the skin and eyes (jaundice) and pale coloring (pallor).
Jaundice
Jaundice is a yellow color of the skin, mucus membranes, or eyes. The yellow coloring comes from bilirubin, a byproduct of old red blood cells. Jau...
Read Article Now Book Mark ArticlePallor
Paleness is an abnormal loss of color from normal skin or mucous membranes.
Read Article Now Book Mark ArticleOther symptoms may include:
- Fatigue
Fatigue
Fatigue is a feeling of weariness, tiredness, or lack of energy.
Read Article Now Book Mark Article - Irritability
- Shortness of breath
Shortness of breath
Breathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough air
Read Article Now Book Mark Article - Weakness
Exams and Tests
In most cases, the spleen is enlarged and can be detected by your health care provider.
Laboratory tests can help diagnose this condition. Tests may include:
- Blood smear to show abnormally shaped cells
- Bilirubin level
Bilirubin level
The bilirubin blood test measures the level of bilirubin in the blood. Bilirubin is a yellowish pigment found in bile, a fluid made by the liver. Bi...
Read Article Now Book Mark Article - Complete blood count (CBC) to check for anemia
Complete blood count
A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...
Read Article Now Book Mark Article - Coombs test
Coombs test
The Coombs test looks for antibodies that may stick to your red blood cells and cause red blood cells to die too early.
Read Article Now Book Mark Article - Lactate dehydrogenase (LDH) level
Lactate dehydrogenase (LDH) level
Lactate dehydrogenase (LDH) is a protein that helps produce energy in the body. An LDH test measures the amount of LDH in the blood.
Read Article Now Book Mark Article - Haptoglobin level
Haptoglobin level
The haptoglobin blood test measures the level of haptoglobin in your blood. Haptoglobin is a protein produced by the liver. It attaches to hemoglobi...
Read Article Now Book Mark Article - Osmotic fragility or specialized testing to evaluate for the red blood cell defect
Osmotic fragility
Osmotic fragility is a blood test to detect whether red blood cells are more likely to break down.
Read Article Now Book Mark Article - Reticulocyte count
Reticulocyte count
Reticulocytes are slightly immature red blood cells. A reticulocyte count is a blood test that measures the amount of these cells in the blood....
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Treatment
If the spleen is enlarged, surgery to remove it (splenectomy) cures the anemia but does not correct the abnormal cell shape.
Splenectomy
Spleen removal is surgery to remove a diseased or damaged spleen. This surgery is called splenectomy. The spleen is in the upper part of the belly, ...
Read Article Now Book Mark ArticleFamilies 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.
Pneumococcal vaccine
Content below is taken in its entirety from the CDC Information Statement (VIS): www. cdc. gov/vaccines/hcp/vis/vis-statements/pcv. html
Read Article Now Book Mark ArticleSupport Groups
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/
Outlook (Prognosis)
The outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.
Possible Complications
Complications may include:
- Gallstones
Gallstones
Gallstones are hard deposits that form inside the gallbladder. These may be as small as a grain of sand or as large as a golf ball.
Read Article Now Book Mark Article - Much lower red blood cell production (aplastic crisis) caused by a viral infection, which can make anemia worse
When to Contact a Medical Professional
Contact your provider if:
- Your symptoms get worse.
- Your symptoms do not improve with new treatment.
- You develop new symptoms.
Prevention
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.
References
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.
Red blood cells - normal - illustration
This photomicrograph shows normal red blood cells (RBCs) as seen in the microscope after staining.
Red blood cells - normal
illustration
Red blood cells - spherocytosis - illustration
Spherocytosis is a hereditary disorder of the red blood cells (RBCs), which may be associated with a mild anemia. Typically, the affected RBCs are small, spherically shaped, and lack the light centers seen in normal, round RBCs.
Red blood cells - spherocytosis
illustration
Blood cells - illustration
Blood is comprised of red blood cells, platelets, and various white blood cells.
Blood cells
illustration
Red blood cells - normal - illustration
This photomicrograph shows normal red blood cells (RBCs) as seen in the microscope after staining.
Red blood cells - normal
illustration
Red blood cells - spherocytosis - illustration
Spherocytosis is a hereditary disorder of the red blood cells (RBCs), which may be associated with a mild anemia. Typically, the affected RBCs are small, spherically shaped, and lack the light centers seen in normal, round RBCs.
Red blood cells - spherocytosis
illustration
Blood cells - illustration
Blood is comprised of red blood cells, platelets, and various white blood cells.
Blood cells
illustration
Review Date: 3/31/2024
Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, 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.