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Hereditary Spherocytosis: Treatment, Symptoms & Diagnosis

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.

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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
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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.

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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 the Haemophilus influenzae bacteria prior to splenectomy should be discussed.




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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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