What is Spherocytosis?

In case you have never heard of spherocytosis before or have been newly diagnosed, spherocytosis is an abnormality in the red blood cell (RBC) membrane. The abnormality within the membranes cause the normal flattened indented disks to look more like sphere-shaped cells.

These abnormal red blood cells also breakdown before they normally would giving them a shortened lifespan. They are also smaller than normal red blood cells and rounder in shape. This rounder shape can cause them to be caught as they go through the spleen, which causes them to breakdown. It is an auto-hemolytic anemia disorder of the blood.

Risk Factors for Spherocytosis

Anyone of any race can develop spherocytosis but it is more commonly seen in those of northern European descent. You are at risk if you have a family member with spherocytosis.

The blood disorder spherocytosis is an inherited condition in which the individual receives genes from both of his/her biological parents that are affected.

Symptoms of Spherocytosis

There are only very mild symptoms or the individual may have severe symptoms that appear quickly usually after an infection has invaded the body.

Children can get severe cases of spherocytosis. Newborns are particularly at risk for acute cases of hypoxemia through anemia and acute kernicterus through hyperbilirubinemia.

Individuals who have mild cases of spherocytosis are not usually diagnosed until they are adults.

Symptoms include fatigue, jaundice, hemolytic anemia, gallstones, pale skin, shortness of breath and in children moodiness and irritability.

Treatment for Spherocytosis

You have options when it comes to treatment including taking 1 mg of Folic acid daily and if severe anemia occurs blood transfusions are recommended.

Surgery to remove the spleen can help relieve the anemia due to the RBCs being destroyed in the spleen as they try to fit through. If the patient elects to have the spleen removed (splenectomy), vaccines of meningococcal, Haemophilus, and pneumococcal are administered several weeks before the scheduled surgery.

Surgery to remove the spleen is not recommended for kids younger than five. Once the spleen is removed, there is a real risk of lifetime threatening infections.

If the individual has chronic symptoms they may present with an infection or other illness that will then increase the destruction of RBCs, resulting in acute symptoms and a hemolytic crisis.

A hemolytic crisis is when because of the illness or infection a rapid destruction of red blood cells takes place in which the destruction happens faster than the person’s body can produce more red blood cells to replace the destroyed ones. Emergency treatment includes oxygen therapy, blood transfusions, and other treatments deemed necessary by the doctors.

The doctor may perform tests such as a CBC and blood chemistry, ultrasounds of the abdomen and kidney and also CT scans of the abdomen and kidney.

You cannot prevent spherocytosis because it is an inherited disease. Early diagnosis and early treatment gives individuals with spherocytosis the best possible outcome.

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