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Congenital spherocytic anemia
Hereditary spherocytosis; Spherocytosis; Hemolytic anemia - spherocytic
Congenital spherocytic anemia is a 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 ...
Causes
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. Having a family history of spherocytosis increases the risk for this disorder.
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.
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. Different type...
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...
Pallor
Paleness is an abnormal loss of color from normal skin or mucous membranes.
Other symptoms may include:
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Fatigue
Fatigue
Fatigue is a feeling of weariness, tiredness, or lack of energy.
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Shortness of breath
Shortness of breath
Breathing difficulty may involve:Difficult breathingUncomfortable breathingFeeling like you are not getting enough air
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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
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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...
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Complete blood count
to check for anemia
Complete blood count
A complete blood count (CBC) test measures the following:The number of red blood cells (RBC count)The number of white blood cells (WBC count)The tota...
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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.
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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.
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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
Surgery to remove the spleen ( 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, ...
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.
Outlook (Prognosis)
This 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:
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Gallstones
Gallstones
Gallstones are hard deposits that form inside the gallbladder. Gallstones may be as small as a grain of sand or as large as a golf ball.
ImageRead 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
Call your health care 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 Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice . 6th ed. Philadelphia, PA: Elsevier; 2013:chap 43.
Klatt EC, Kumar V. Hematopathology of red blood cells and bleeding disorders. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 14.
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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
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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
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Blood cells - illustration
Blood is comprised of red blood cells, platelets, and various white blood cells.
Blood cells
illustration
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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: 2/1/2016
Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
