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 occurs in all races, but is most common in people of northern European descent.

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

Copyright © Nucleus Medical Media, Inc.

Causes

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

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.

The following factors increase your chance of developing spherocytosis:

• Having a family member with spherocytosis

Symptoms

Symptoms include:

Diagnosis

Your doctor will ask about your symptoms and medical history, and perform a physical exam.

Tests may include the following:

• Examination of the spleen
• Blood tests
• Liver function tests
• Osmotic and incubated fragility tests to diagnose hereditary spherocytosis
• Coombs' Test—an antiglobulin test to examine red blood cell antibodies

Treatment

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

Prevention

Because spherocytosis is an inherited condition, it is not possible to prevent the disease. Regular screening of individuals at high risk, however, can prevent the risk of complications of the disease with early treatment.