BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuHereditary spherocytic anemiaCongenital 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 anemiaAnemia 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 ...ImageRead Article Now Book Mark Article 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.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.AnemiaAnemia 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...ImageRead Article Now Book Mark Article 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).JaundiceJaundice 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...ImageRead Article Now Book Mark Article PallorPaleness is an abnormal loss of color from normal skin or mucous membranes.Read Article Now Book Mark Article Other symptoms may include:Fatigue FatigueFatigue is a feeling of weariness, tiredness, or lack of energy.Read Article Now Book Mark Article Irritability Shortness of breath Shortness of breathBreathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough airImageRead Article Now Book Mark Article WeaknessWeaknessWeakness is reduced strength in one or more muscles.Read Article Now Book Mark Article 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 Bilirubin levelThe 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...ImageRead Article Now Book Mark Article Complete blood count to check for anemia Complete blood countA 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...ImageRead Article Now Book Mark Article Coombs test Coombs testThe 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 LDH level Haptoglobin level Osmotic fragility or specialized testing to evaluate for the red blood cell defect Osmotic fragilityOsmotic fragility is a blood test to detect whether red blood cells are more likely to break down.Read Article Now Book Mark Article Reticulocyte countReticulocyte countReticulocytes are slightly immature red blood cells. A reticulocyte count is a blood test that measures the amount of these cells in the blood....ImageRead Article Now Book Mark Article Treatment Surgery to remove the spleen (splenectomy) cures the anemia but does not correct the abnormal cell shape.SplenectomySpleen 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, ...ImageRead Article Now Book Mark Article 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. Support 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 GallstonesGallstones 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.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 Contact 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.Open ReferencesReferencesGallagher 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.AllVideoImagesTogRed blood cells - normal - illustration This photomicrograph shows normal red blood cells (RBCs) as seen in the microscope after staining.Red blood cells - normalillustrationRed 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 - spherocytosisillustrationBlood cells - illustration Blood is comprised of red blood cells, platelets, and various white blood cells.Blood cellsillustrationRed blood cells - normal - illustration This photomicrograph shows normal red blood cells (RBCs) as seen in the microscope after staining.Red blood cells - normalillustrationRed 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 - spherocytosisillustrationBlood cells - illustration Blood is comprised of red blood cells, platelets, and various white blood cells.Blood cellsillustrationRelated Information Hemolytic anemia(Condition)Anemia(Condition)Gallstones(Condition)Anemia - InDepth(In-Depth)Gallstones and gallbladder disease - InDepth(In-Depth) Review Date: 1/25/2022 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, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Hereditary spherocytic anemiaCongenital 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 anemiaAnemia 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 ...ImageRead Article Now Book Mark Article 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.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.AnemiaAnemia 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...ImageRead Article Now Book Mark Article 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).JaundiceJaundice 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...ImageRead Article Now Book Mark Article PallorPaleness is an abnormal loss of color from normal skin or mucous membranes.Read Article Now Book Mark Article Other symptoms may include:Fatigue FatigueFatigue is a feeling of weariness, tiredness, or lack of energy.Read Article Now Book Mark Article Irritability Shortness of breath Shortness of breathBreathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough airImageRead Article Now Book Mark Article WeaknessWeaknessWeakness is reduced strength in one or more muscles.Read Article Now Book Mark Article 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 Bilirubin levelThe 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...ImageRead Article Now Book Mark Article Complete blood count to check for anemia Complete blood countA 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...ImageRead Article Now Book Mark Article Coombs test Coombs testThe 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 LDH level Haptoglobin level Osmotic fragility or specialized testing to evaluate for the red blood cell defect Osmotic fragilityOsmotic fragility is a blood test to detect whether red blood cells are more likely to break down.Read Article Now Book Mark Article Reticulocyte countReticulocyte countReticulocytes are slightly immature red blood cells. A reticulocyte count is a blood test that measures the amount of these cells in the blood....ImageRead Article Now Book Mark Article Treatment Surgery to remove the spleen (splenectomy) cures the anemia but does not correct the abnormal cell shape.SplenectomySpleen 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, ...ImageRead Article Now Book Mark Article 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. Support 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 GallstonesGallstones 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.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 Contact 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.Open ReferencesReferencesGallagher 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.