Spherocytosis (Hereditary, HS)

  • Medical Author:
    Charles Patrick Davis, MD, PhD

    Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.

  • Medical Editor: Melissa Conrad Stöppler, MD
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Spherocytosis facts

  • Spherocytosis is the production of abnormal red blood cells that are in the shape of a sphere instead of the concave disk shape of normal red blood cells, resulting in fragile and abnormal red blood cells.
  • Other symptoms and signs of spherocytosis include
  • Inherited genetic mutations cause most hereditary spherocytosis disease, although in some cases spherocytes may be generated by conditions like autoimmune hemolytic anemia.
  • Doctors that treat hereditary spherocytosis may include pediatricians, primary care doctors, hematologists, surgeons who remove spleens and/or gallbladders, hospitalists, and occasionally geneticists and/or immunologists.
  • Spherocytosis is diagnosed by the patient's history, physical exam, and laboratory tests that include microscopic examination of the red blood cells.
  • The treatment for hereditary spherocytosis is individualized and may require transfusions, folic acid administration, full or partial splenectomy, and/or cholecystectomy.
  • Complications of spherocytosis may include megaloblastic crisis, low folic acid levels, splenomegaly, and/or gallbladder problems.
  • The prognosis for spherocytosis may be good to fair, depending upon the development of complications.

What is spherocytosis?

Spherocytosis is the production of red blood cells (erythrocytes) that are in the shape of a sphere (spherocytes) instead of the concave disk shape that is normal for red blood cells. These spherocytes are abnormal, fragile and possess a short lifespan as compared to normal red blood cells. The cells tax the ability of the spleen to clear out abnormal red cells and their products, and this can result in an enlargement of the spleen (splenomegaly) and gallbladder disease problems. Spherocytosis can be found in hereditary spherocytosis (HS), and in a few other diseases such as autoimmune hemolytic anemia. The emphasis of this article is on hereditary spherocytosis.

What are the signs and symptoms of jaundice?

Jaundice is not a disease it's a symptom of a disease process. There are many causes of jaundice, and symptoms and signs include:

  • Yellowing of the skin and/or whites of the eyes
  • Pale colored stools
  • Weakness
  • Itchy skin
  • Loss of appetite
  • Headache...

What are the signs and symptoms of spherocytosis?

The signs and symptoms of spherocytosis include:

  • Anemia
  • Paleness (pallor)
  • Jaundice (especially in children)
  • Intermittent jaundice (more often in adults)
  • Enlarged spleen (splenomegaly; a majority of all patients with spherocytosis)
  • Gallstone development (for example, bilirubin stones due to spherocyte lysis)
  • Spherocytes seen in microscopic examination of red blood cells

What causes spherocytosis?

Hereditary spherocytosis is the predominant cause of spherocytosis, and is caused by several genetic mutations that lead to membrane abnormalities of red blood cells. The disease usually is inherited as an autosomal dominant trait; although a few people with hereditary spherocytosis may develop it secondary to new mutations. In addition, there is an autosomal recessive mode of inheritance that also may occur in about 20%-25% of all individuals with hereditary spherocytosis.

Spherocytosis may be present in autoimmune hemolytic anemia in which autoantibodies react with red blood cells and cause alterations in their membranes that includes lysis of red blood cells. Spherocytes may develop during this destruction of red blood cells.

What kind of doctor treats spherocytosis?

Doctors that treat spherocytosis may include pediatricians, primary care physicians, internists, hematologists, hospitalists, and possibly surgeons (to remove gallbladders and/or spleens). Other doctors on the treatment team may include geneticists and/or immunologists.

How is spherocytosis diagnosed?

After the doctor takes a history and does a physical exam, the diagnosis of spherocytosis is based upon identifying the abnormal red blood cells under a microscope. Blood tests that often are ordered include:

  • Complete blood cell count (CBC)
  • Reticulocyte count
  • Mean corpuscular hemoglobin concentration (MCHC)
  • Peripheral blood smear (microscopic examination of red blood cells)
  • Lactate dehydrogenase (LDH) level
  • Fractionated bilirubin levels
  • Osmotic fragility test
  • Direct anti-globulin test

Other tests may be done to rule in or rule out other diseases (for example, a bone marrow biopsy) that may be a cause of abnormal red blood cells.

What is the treatment for spherocytosis?

Treatment protocols vary; neonates may require phototherapy and/or exchange transfusions. Both adults and children are likely to require folic acid supplementation to sustain red blood cell production. Children may be candidates for partial or complete splenectomy (removal of the spleen) depending upon the severity of the disease. The most common complication of all hereditary spherocytosis patients is the development bilirubin gallstones and may require removal of the gallbladder (cholecystectomy). Each patient's condition should be discussed in detail with their treating physicians to help determine the individual's treatment plan and follow-up. For example, consideration of vaccination against Pneumococcus (pneumonia) and Haemophilus influenzae (the flu) prior to splenectomy should be discussed.

QUESTION

Sickle cell disease is named after a farming tool. See Answer

What are the complications of spherocytosis?

  • One of the complications spherocytosis is a megaloblastic crisis (production of abnormally large immature and dysfunctional red blood cells). Appropriate folic acid supplementation may prevent this situation.
  • Occasionally the spleen (due to splenomegaly and destruction of partially functioning red blood cells) and the gallbladder (due to repeated gallstone development) may need to be removed as a complication of spherocytosis.
  • Anemia also is a complication of spherocytosis, and blood transfusions may be required.
  • Occasionally, a sudden increase in symptoms termed a crisis may occur due to viral infections or other problems that may influence the bone marrow production of red blood cells.

Folic acid or folate levels may need to be monitored.

What is the prognosis for a person with spherocytosis?

The prognosis for a person with spherocytosis is good to fair, and most individuals will have a normal life expectancy. Individuals that have the spleen and/or gallbladder removed may have fewer complications develop and have the abnormal red blood cells (spherocytes) survive and function longer, thus requiring fewer transfusions or other interventions.

What are other names for spherocytosis?

In general, spherocytosis is usually modified by another word; consequently, spherocytosis may be written in the medical literature are:

  • Hereditary spherocytosis
  • Congenital hemolytic anemia
  • Congenital hemolytic jaundice
  • Chronic familial jaundice
  • Spherocytic anemia
  • Chronic acholuric jaundice

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Medically Reviewed on 12/5/2018
References
Medically reviewed by Jay Zatzkin, MD; American Board of Internal Medicine with subspecialty certification in Oncology

REFERENCE:

Gonzales, G. "Hereditary spherocytosis." Medscape. Updated Oct 13, 2016.
<http://emedicine.medscape.com/article/206107-overview>
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