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 discs, 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 mild, with minor symptoms, or 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—known as jaundice
  • Pallor
  • Shortness of breath
  • Fatigue
  • Weakness
  • In children, irritability and moodiness

Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done.Your bodily fluids may be tested. This can be done with blood tests.

Treatment

Talk with your doctor about the best treatment plan for you. Treatment options include:

Folic Acid Supplementation

Folic acid 1 mg daily and consideration for blood transfusions are recommended during periods of severe anemia.

Surgery

Surgical removal of the spleen can cure the anemia. The abnormal shape of blood cells remain, but the blood cells are no longer destroyed in the spleen. Currently, meningococcal, Haemophilus, and pneumococcal vaccines are administered several weeks before splenectomy. Lifetime penicillin prophylaxis is recommended after surgery to prevent dangerous infections. The surgery is not recommended for children under 5 years old. There is a lifetime risk of serious and potentially life threatening infections. Currently, meningococcal, Haemophilus, and pneumococcal vaccines are administered several weeks before splenectomy. Lifetime penicillin prophylaxis is recommended after surgery to prevent dangerous infections. The surgery is not recommended for children under 5 years old. There is a lifetime risk of serious and potentially life threatening infections.

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