Spherocytosis

(Congenital Spherocytic Anemia; Hereditary Spherocytosis)

Definition

Spherocytosis is a condition that causes an abnormality in the red blood cell membrane. While healthy blood cells are shaped like flattened, indented disks, these abnormal membranes lead to sphere-shaped red blood cells, and the premature breakdown of those cells.Red blood cells suffering from spherocytosis are smaller, rounder in shape, and more fragile than healthy red blood cells. The rounded shape causes the red blood cells to be caught in the spleen, where they break down.Spherocytosis cases may be very mild, with minor symptoms, or very severe with symptoms that quickly surface. These symptoms may occur after certain types of infections. Severe cases may be diagnosed in childhood, while those with mild symptoms may not be diagnosed until into adulthood.With treatment, symptoms can be controlled.
Healthy Red Blood Cells
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Causes

Spherocytosis is a hereditary condition caused by genes inherited from the parents.

Risk Factors

Spherocytosis occurs in all races, but is most common in people of northern European descent. Having a family member with spherocytosis also increases your risk.

Symptoms

Spherocytosis may cause:
  • Yellowing of the skin and/or eyes—jaundice
  • Pallor
  • Shortness of breath
  • Fatigue
  • Weakness
  • In children, irritability and moodiness
  • Hemolytic anemia
  • Gallstones

Diagnosis

Your doctor will ask about your symptoms and medical history. A physical exam will be done. Tests may include:
  • Examination of the spleen
  • Blood tests
  • Osmotic and incubated fragility tests to diagnose hereditary spherocytosis
  • Coombs' test—an antiglobulin test to examine red blood cell antibodies

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