Hereditary Spherocytosis

 

  • 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).
  • Most cases can be detected soon after birth. An adult with this disease should have their children tested, although the presence of the disease in children is usually noticed soon after birth. Occasionally, the disease will not be noticed until the child is about 4 or 5 years of age.
Spherocytes

Spherocytes

 

Howell & Jolly Bodies

Howell & Jolly Bodies

Signs and symptoms

  • include anemia, jaundice(hyperbilirubinemia), and an enlarged spleen (splenomegaly).
  • The anemia can vary from mild to severe.
  • the unconjugated or indirect bilirubin from the broken-down blood cells, accumulates in the gallbladder, and can cause pigmented gallstones.
  • an infection or other illness can cause an increase in the destruction of red blood cells, resulting in the appearance of acute symptoms, a hemolytic crisis.
  • Aplastic crisis with dramatic fall in hemoglobin and (reticulocyte count)-decompensation, usually due to maturation arrest and often associated with megaloblastic changes usually caused by infection.
  • Folate deficiency caused by increased bone marrow requirement.

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 (the red blood cells will appear abnormally small and lack the central pallor)
  •     Bilirubin level: indirect Bilirubin increased
  •     Complete blood count to check for anemia
  •     Coombs’ test
  •     LDH level: Increased
  •     Osmotic fragility: This test is widely considered the gold standard for diagnosing hereditary spherocytosis, it misses as many as 25% of cases, In this test, the spherocytes will rupture in mildly hypotonic solutions – this is due to increased permeability of the spherocyte membrane to salt and water.
  •     Reticulocyte count: Increased

Treatment:

  • Splenectomy is indicated for moderate to severe cases, but not mild cases.
  • Children should wait until age 5 to have splenectomy because of the infection risk
  • Children and adults should be given a pneumococcal vaccine before spleen removal surgery, and also may receive folic acid supplements.


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