SPHEROCYTIC ANEMIA

SPHEROCYTIC ANEMIA

Overview and Facts

Spherocytic anemia is a genetic cell membrane disorder of your erythrocytes or red blood cells (RBC). Due to the mutations of the genes that code for the proper shape of your erythrocytes, instead of having the stereotypical flattened disc shape, the erythrocytes become spherical, hence the name. Being spherical, they are less flexible and cannot carry the same capacity of oxygen as regularly-shaped erythrocytes.

In a normal individual, the immune system’s response to infections is initiated by the spleen. The spleen acts as a sieve that excludes pathogens and cellular debris out of the body. Unfortunately, due to the abnormality in the shape of the erythrocytes, it is difficult for the erythrocytes to pass through the spleen.

Due to the abnormality of the cell membrane structure of the erythrocytes, this prompts the spleen to lyse them at a much greater pace. This process of breaking down erythrocytes is called hemolytic anemia. A normal erythrocyte’s life span is 120 days, but if an individual is afflicted with this condition, their erythrocyte might live for as short as 10 to 30 days.

Types and Symptoms

SYMPTOMS

Spherocytic anemia can range from mild to severe. Symptoms usually fall on a spectrum depending on the degree of severity. Individuals with mild spherocytic anemia are unaware most of the time that they have the disease. The symptoms of spherocytic anemia include:

  • Anemia
  • Jaundice
  • Gallstones
  • Enlarged spleen

Diagnosis & Medications

DIAGNOSIS

Spherocytic anemia is most often diagnosed in childhood or early adulthood. Family history plays a crucial role in obtaining a clear diagnosis. Your doctor will evaluate your family history alongside with your symptoms.

Your doctor will perform a physical exam by palpating different regions of your abdomen. This is done to assess whether your spleen is enlarged.

Your doctor will probably ask you to provide a blood sample for analysis. A complete blood count (CBC) will check the number of all your blood cells and it may also be possible to view the size of your erythrocytes.

Your doctor will also order a bilirubin test.

 

TREATMENT

There may be no possibility of treating spherocytic anemia, but it could be managed through symptomatic treatment. Your treatment will fall on a spectrum on the severity of your symptoms. Options include:

  • In moderate or severe disease, putting your body under the knife to remove your spleen is a necessity. Despite this, however, your erythrocytes will still retain their spherical shape, but they will live longer. This procedure can also prevent gallstones.
  • Folic acid, a hematinic, is usually recommended to be taken by individuals with spherocytic anemia.
  • Blood transfusion. You may need to be transfused with whole red blood cells.
  • Phototherapy
  • Routine vaccinations are recommended to prevent complications that arise from infections.

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