Spherocytosis Is a condition that causes a person’s red blood cells to be shaped like spheres (balls) instead of the normal disk shape. It causes symptoms of anemia (a lack of healthy red blood cells) and an enlarged spleen (an organ that filters and stores blood).
This condition is usually inherited. It is caused by various genetic changes that affect proteins in the outer membrane of red blood cells.
Types of Spherocytosis
There are four types of spherocytosis, and they are differentiated based on the severity of the condition.
The types of spherocytosis are:
- Mild: This type rarely causes symptoms, or symptoms may occur when there is a trigger.
- Moderate: This is the most common type and causes moderate symptoms. This type usually requires ongoing monitoring and treatment as needed.
- Moderate/Severe: This type causes frequent symptoms and may require Splenectomy (surgical removal of the spleen).
- Severe: This type may require frequent blood transfusions and can be life-threatening.
These types are also characterized as characteristic, mild, moderate and severe.
The specific type of spherocytosis that a person has is associated with specific genetic variants and the affected red blood cell proteins.
What are the symptoms of spherocytosis?
Spherocytosis can cause symptoms that begin in childhood and persist throughout life. Symptoms can vary in severity from very severe to mild, and symptoms and effects can occur frequently or rarely.
Sometimes symptoms are triggered by stress to the body, such as an infection.
Common symptoms and effects of spherocytosis:
- Anemia: causes fatigue and pale skin
- hemolysis (breakdown of red blood cells): causes jaundice (yellow discoloration or the whites of the skin and eyes)
- splenomegaly (Enlarged spleen): causes the abdomen to appear large and may cause shortness of breath due to compression of the lungs
- Gallstones (hard stones that form in the gallbladder): can cause abdominal pain and decreased appetite
These symptoms may occur intermittently and may improve with treatment.
Recognize the signs and symptoms of anemia
Spherocytosis can make a person susceptible to severe anemia or infection. A severely enlarged spleen can rupture, which is dangerous.
What causes the spleen to rupture?
What causes spherocytosis?
Spherocytosis occurs when the red blood cell membrane lacks certain proteins that give the membrane flexibility. Defective proteins associated with this condition include a-spectrin, b-spectrin, ankyrin, band 3 and band 4.2.
This structural membrane defect causes red blood cells to be spherical and may lead to hemolysis (breakdown) of red blood cells.
Hemolysis of red blood cells leads to anemia. The accumulation of red blood cell components in the spleen leads to an enlarged spleen. The accumulation of bilirubin (from the breakdown of red blood cells) can lead to gallstones.
Spherocytosis is usually inherited, passed from parent to child. Usually, the mode of inheritance is autosomal dominant. This means that it is passed on through chromosomes other than X and Y, and anyone with the gene can develop the disease.
Sometimes it is inherited in an autosomal recessive pattern, which means a person needs to have two copies of the disease-causing gene (one from each inherited parent) to develop the disease. Parents who are carriers may not be affected in any way, and it can rarely develop without inheritance.
The most common defect that can cause spherocytosis is the ANK1 gene, which encodes an ankyrin. This condition may also be caused by defects in the genes EPB42 (code for protein 4.2), SLC4A1 (code for band 3), SPTA1 (code for a-spectrin) and SPTB (code for b-spectrin).
Each of these genes is associated with a different membrane protein defect. Usually only one genetic defect is needed to cause this condition. People with nonhereditary spherocytosis can also develop a genetic defect, but it is not inherited.
Genes and Severity
The clinical severity of spherocytosis is associated with deficiencies in specific genes and resulting proteins.
How is spherocytosis diagnosed?
You may have signs of spherocytosis that your doctor can detect on a physical examination, such as pale skin, jaundice, an enlarged abdomen, or a palpable (felt by touch) spleen. With spherocytosis, these signs are not always present.
Spherocytosis is diagnosed by blood tests and genetic testing to assess the characteristics of red blood cells.
Common blood tests that may raise concerns about spherocytosis include:
- Complete blood count (CBC): Hemoglobin levels (the oxygen-carrying protein in red blood cells) and reticulocyte counts (counts of young red blood cells) correlate with the severity of spherocytosis.
- Peripheral blood smear: This microscopic examination shows red blood cells that are spherical, small, and heavily stained.
- Bilirubin test: Bilirubin is a product of the breakdown of red blood cells. It can be measured in blood.
|Diagnostic criteria for types of spherocytosis|
|feature||normal||less than 3%||Less than 1 milligram per deciliter (mg/dL)|
|Moderate||110–150 grams per liter (g/L)||3% to 6%||1–2 mg/dL|
|ease||80–120 g/l||more than 6%||more than 2 mg/dL|
|serious||60–80 g/L||more than 10%||more than 3 mg/dL|
Specific tests may be ordered if there is concern about spherocytosis.
- Eosin-5-maleimide binding (EMA) test: measures the binding of EMA to the plasma membrane of erythrocytes.Low binding rate in spherocytosis
- Acidified glycerol lysis time (AGLT): measures the breakdown of red blood cells, increased in spherocytosis
Treatment of spherocytosis
The condition can be managed medically and sometimes requires surgical intervention. There is no cure for spherocytosis, but medical care can help improve outcomes and quality of life and prevent complications.
- Folic acid: Sometimes, folic acid supplementation can help improve red blood cell formation.
- Iron: Supplementing with this mineral can help improve red blood cell counts, especially if extensive hemolysis occurs.
- Blood transfusion: This can be done when red blood cell levels are very low.
- Splenectomy: If the enlarged spleen is severe, surgical removal of the spleen can include total or partial splenectomy. Splenectomy reduces hemolysis. Total splenectomy increases susceptibility to infection.
- Immunizations: Infections can trigger hemolysis, and people with spherocytosis may also be at increased risk of infection, so vaccination to prevent infection is recommended.
- Treatment of gallstones: If gallstones cause severe pain, surgery or other procedures may be needed.
Spherocytosis is a disorder of red blood cells that is usually inherited. This is a lifelong disease in which red blood cells are prone to excessive hemolysis (breakdown) due to defects in their membranes. The severity of the condition varies from mild to severe, and treatment can help relieve symptoms and prevent complications.
Spherocytosis is usually hereditary. If you have been diagnosed with this condition, you may already have other family members with the condition. If your family member has been diagnosed with spherocytosis, you may consider genetic testing or other diagnostic testing for yourself or your child.
While this condition requires ongoing medical monitoring and may require repeated treatment, it can usually be managed with medical care.
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Wu Y, Liao L, Lin F. Diagnostic protocol for hereditary spherocytosis-2021 update. J Clin Lab Anal. 2021;35(12):e24034. doi:10.1002/jcla.24034
Kiliç MA, Özdemir GN, Tahtakesen TN, Gökçe M, Uysalol EP, Bayram C, Ayçiçek A, Aydoğan G. Clinical features and outcomes of children with hereditary spherocytosis. J Pediatr Hematol Oncol. May 31, 2021. doi:10.1097/MPH.0000000000002211
Rare Disease Database. Hereditary spherocytosis.
U.S. Department of Health and Human Services. Hereditary spherocytosis.
Manciu S, Matei E, Trandafir B. Hereditary spherocytosis – diagnosis, surgical treatment and outcomes. literature review. Chirurgia (Bukkur). 2017;112(2):110-116. doi: 10.21614/chirurgia.112.2.110
Vecchio R, Cacciola E, Cacciola RR, Intagliata E. Surgical management of hereditary spherocytosis: current strategies. Ann Ital Chir. 2018;89:473-478
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