Hereditary Spherocytosis

Spherocytosis is a condition characterized by the production of abnormal sphere shaped red blood cells with fragile cell wall. These red blood cells can get easily damaged and destroyed, which can cause anemia or low count of red blood cells. Hereditary spherocytosis is spherocytosis that is congenital, or genetically transmitted. Usually, a defect in one or more proteins that maintain the usual bi-concave disk shape of the red blood cells or erythrocytes is responsible for this condition.

Such abnormally shaped erythrocytes usually cannot change their shape in order to easily pass through certain organs, especially the spleen. As a result, they tend to stay longer in the spleen and their cell membrane gets easily damaged while passing through the spleen. Eventually, these cells get so damaged that they are broken down by the spleen in about 10 to 30 days. On the other hand, the lifespan of a normal red blood cell is about 100 to 120 days. So, this condition can easily lead to destruction of a large number of erythrocytes, which can cause hemolytic anemia.

Causes of Hereditary Spherocytosis

It is caused by a defect in the gene associated with the production of the erythrocyte membrane proteins. Most of the time, it is an inherited condition. However, sometimes, spontaneous genetic mutation can also take place, which can lead to the production of abnormal, spherical red blood cells. It is found to be more prevalent in people of the Northern Europe descent and Japan.

Hereditary Spherocytosis Symptoms

The symptoms can vary to an extent, depending on the severity of the condition. The most common condition that develops due to this condition is anemia. Anemia can manifest in general weakness and increased fatigue, due to low red blood cell count. A deficiency of red blood cells can also affect the supply of oxygen to vital organs and tissues of the body. Increased destruction of red blood cells by the spleen can result in hyperbilirubinemia, or the presence of abnormally high amount of pigment bilirubin in blood. Bilirubin is the pigment produced due to the breakdown of red blood cells. Hyperbilirubinemia can produce symptoms like pale skin, increased fatigue, and jaundice.

The pigment, bilirubin, if accumulated in the gallbladder, can eventually cause the formation of gallstones. Furthermore, it can lead to a life-threatening condition called splenomegaly. Splenomegaly refers to an abnormal enlargement of the spleen, which can result from an increased breakdown of red blood cells.

Hereditary Spherocytosis Diagnosis and Treatment

Diagnosis requires several tests and examinations. Generally, physical examination reveals an enlarged spleen. However, for accurate diagnosis, complete blood count test, blood smear, osmotic fragility tests and tests for bilirubin level are carried out. Reticulocyte count is another test for diagnosing this condition.

Usually, this condition is managed with supplementation of folic acid and surgical removal of the spleen. Though, splenectomy or surgical removal of the spleen cannot cure the condition, it can increase the life span of the red blood cells. However, children below the age of 5 years are not eligible for splenectomy and hence, for them folic acid supplements is mainly suggested. Children are immunized against the pneumococcus and meningococcal bacteria prior to performing splenectomy, as the risk of infections can increase with the removal of the spleen. A severe case of spherocytosis can however, require blood transfusion.

As it is an inherited condition, the children can be screened in advance for the disorder, if any one or both the parents have this condition. This can help to identify the condition on times, and its effective treatment in order to prevent the complications, that can arise. Another important aspect for managing this disease is careful observation of the symptoms. If the symptoms of the condition seem to be worsening or becoming more severe, then one should immediately inform his or her health care provider or physician.