What is Hereditary Spherocytosis & How is it Treated?

Hereditary Spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. The usual shape of a red blood cell is disc like and flat whereas in Hereditary Spherocytosis the red blood cells become spherical in shape.

They also tend to become stiffer than the normal red blood cells. Under normal circumstances, the defense system of the body starts from the spleen. The function of the spleen is to filter out the bacteria and damaged cells out of the blood stream.

In cases of Hereditary Spherocytosis, it becomes difficult for red blood cells to pass through the spleen due to its shape which results in the spleen to break down the red blood cells faster than they ought to be broken. This results in a medical condition known as hemolytic anemia. The normal lifespan of a red blood cell is up to 120 days but this is cut short to a maximum of 30 days in cases of Hereditary Spherocytosis.

A genetic defect is the root cause of Hereditary Spherocytosis. This is supported by the fact that if an individual’s family member has this condition then the chances of him or her developing Hereditary Spherocytosis increases. This condition is usually noticed in people who belong to the Northern European descent.

The symptoms of Hereditary Spherocytosis can be variable and range from mild to severe. They basically differ depending on the severity of the disease. In some cases, the symptoms are so mild that the patients may not even know that they may have Hereditary Spherocytosis. Some of the symptoms of Hereditary Spherocytosis are:

Anemia: This is caused as a result of the red blood cells breaking down faster than they normally should. This will result in symptoms similar to anemia like persistent fatigue, shortness of breath, getting irritated easily, persistent dizziness, tachycardia, frequent headaches, and jaundice.

Jaundice: This is yet another symptom of Hereditary Spherocytosis. This is because when the cells break down they release bilirubin and when the red blood cells break down too fast there is accumulation of bilirubin leading to classic symptoms of jaundice.

Gallstones: Excess accumulation of bilirubin also leads to development of gallstones. This condition may remain asymptomatic until there is obstruction caused by gallstones characterized by symptoms of acute onset pain in the right abdomen, pain in the right shoulder, appetite loss, nausea, and vomiting. Additionally splenomegaly is yet another common cause of Hereditary Spherocytosis.

The symptoms of Hereditary Spherocytosis in infants and children are slightly different from that of adults. They may show signs of jaundice within the first week of life. Additionally they will show sign of being restless and irritable, find it difficult to feed, sleeps way too much than normal, low urine output.

Majority of the cases of Hereditary Spherocytosis are diagnosed in early childhood or early puberty. In most of the cases, there is a family history of Hereditary Spherocytosis.

In order to confirm the diagnosis, the physician may ask about the patient’s personal and family history to determine if anybody else in the family has had the same disorder. A detailed physical examination will be performed looking for an enlarged spleen which will be present in cases of Hereditary Spherocytosis.

A blood test will be done in which the shape of the red blood cells will be analyzed under a microscope and the irregular shape of the red blood cells with virtually confirm the diagnosis of Hereditary Spherocytosis. Additionally bilirubin levels may be checked which will be elevated in cases of Hereditary Spherocytosis.

There is no clear cut treatment for Hereditary Spherocytosis but treatment is mainly symptomatic. The physician will formulate a treatment plan depending on the extent and severity of the condition.

Surgery is an option for moderate to severe form of Hereditary Spherocytosis. The procedure performed is splenectomy in which the spleen is removed. This will allow the red blood cells to live longer, although it will in no way alter the shape of the red blood cells. Splenectomy will also help in preventing gallstones.

There are also cases of Hereditary Spherocytosis where no surgery is required, especially for children who are less than 5 years of age. Additionally, the patient will be given folic acid and vitamin D which will help in making new red blood cells.

For severe cases of anemia, blood transfusions may be required as a mode of treatment for anemia caused by Hereditary Spherocytosis. Phototherapy is recommended for newborns and infants with jaundice as a result of Hereditary Spherocytosis.

It is also important for people with Hereditary Spherocytosis to be adequately vaccinated so as to prevent infections as any sort of infection can trigger red blood cells destruction and complicate Hereditary Spherocytosis.