Hereditary Spherocytosis Definition, Reason, Symptoms, Treatment & Prevention
Definition
Hereditary spherocytosis (HS), or hereditary spherocytosis, is a condition that affects the surface layer, also known as the red blood cell membrane. This condition causes red blood cells to change shape, from a thin layer with a concavity to a spherical or round shape. Unfortunately, these round cells have less flexibility than normal red blood cells.
In a healthy person, the immune system’s response to infection usually starts in the spleen. The spleen filters bacteria and damaged cells from the bloodstream. However, in spherocytosis, red blood cells have difficulty passing through the spleen due to their shape and stiffness.
This change in shape that occurs in red blood cells causes the spleen to break down these cells more rapidly, a process called hemolysis. Whereas in general, normal red blood cells have a life span of up to 120 days. However, red blood cells in hereditary spherocytosis generally only have a life span of 10 to 30 days.
Symptoms
The severity of hereditary spherocytosis varies from mild to severe. Signs and symptoms also vary, depending on the degree of severity of the condition being experienced. Most people with hereditary spherocytosis have moderate severity. In those with mild hereditary spherocytosis, signs and symptoms are sometimes less pronounced.
Hereditary spherocytosis causes red blood cells to break down faster than they should, which can then lead to anemia. If this condition causes anemia, the person experiencing it usually looks paler than before.
Other signs and symptoms of anemia due to hereditary spherocytosis generally include disorders such as:
- feeling tired
- hard to breathe
- feeling dizzy
- increase in heart rate
- headache
- palpitations (rapid heartbeat)
- yellowing of the skin
When red blood cells break down, the pigment bilirubin is released into the bloodstream. When the breakdown of red blood cells occurs very quickly, it can cause excessive release of bilirubin into the bloodstream. This increased production of bilirubin can cause a yellowish condition on the skin. In addition, the whites of the eyes can also turn yellowish.
Increased production of bilirubin can also cause gallstones. This condition can occur in the gallbladder when excessive amounts of bilirubin enter the bile. However, gallstones are difficult to detect because there may be no complaints or no signs or symptoms until a blockage occurs.
Some of the signs and symptoms that can occur in people with gallstones are:
- sudden pain in the upper right abdomen
- sudden pain in right back
- decreased appetite
- nauseous
- vomiting
- fever
- yellowing of the skin
In children, the signs and symptoms of spherocytosis can be different. Yellowish skin is the most common symptom in children, especially in the first weeks of life. Symptoms in babies can include yellowing of the eyes or skin, fussiness, difficulty getting food, excessive sleep, and decreased frequency of urination.
In children with hereditary spherocytosis, the onset of puberty may be delayed. In general, the most common disorders encountered in hereditary spherocytosis are anemia, yellowing of the skin, and enlargement of the spleen.
Reason
Hereditary spherocytosis is caused by a genetic abnormality. People with a family history of this disorder have a higher chance of experiencing the same condition.
Diagnosis
Hereditary spherocytosis is most often diagnosed in childhood or young adulthood. Often, there is a family history of similar conditions. The diagnosis of this condition can be determined based on a detailed medical interview, direct physical examination, and certain supporting examinations.
During a medical interview, the doctor may ask about signs and symptoms experienced, past medical history, and possible family history of illness. On physical examination, the doctor can check for enlargement of the spleen by examining the abdomen.
One of the supporting tests that can be done is a blood test. From this examination, the level and size of red blood cells can be evaluated. Blood tests with a microscope can also help the doctor evaluate the size of the red blood cells, which can then help determine the presence of this condition. In addition, doctors can also check bilirubin levels.
Treatment
Treatment of hereditary spherocytosis depends on various factors, one of which is the degree of severity of the condition.
Several types of treatment that can be done are:
- Surgery. In cases of moderate or severe severity, removal of the spleen can prevent complications that often arise due to hereditary spherocytosis. Red blood cells can remain round in shape, but their life span can be much longer.
- Removing the spleen can also help prevent gallstones from forming. Not everyone with this condition needs the spleen removed. For example, mild cases can be treated without surgery.
- Providing vitamins. Folic acid, a type of B vitamin, is generally recommended for those with hereditary spherocytosis. Folic acid can help the formation of new red blood cells. Daily doses of folic acid are an initial treatment option in children and those with mild hereditary spherocytosis.
- Blood transfusion. In people with severe anemia, red blood cell transfusions are usually needed.
- Light therapy. In babies who experience jaundice, the doctor may recommend light therapy, which is also known as phototherapy.
Prevention
Because spherocytosis is often related to genetic factors, there is no known completely effective way to prevent this condition.