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Hereditary Spherocytosis

Hereditary spherocytosis (HS) is an inherited blood disease that results in anemia. If your child has HS, either parent may also have the disease. However, in about 25% of cases neither parent of an affected child has the disease. In the United States, approximately 1 in 5,000 people have hereditary spherocytosis.

Hereditary spherocytosis is a disease in which the red blood cells are misshaped and fragile. The job of the red blood cells is to circulate oxygen to all parts of the body. Normal red blood cells look donut shaped. They are flexible, sleek, and circulate easily through all of the body’s organs.

Spherocytes are more plump, round, and are not very flexible. They are not able to change shape to pass through some of the organs and small blood vessels in the body as easily as normal red blood cells.

Because spherocytes can’t change their shape easily, they have a particularly difficult time passing through the spleen. The spleen is a filtering organ in the body. Often the spherocytes become damaged in the process of passing through the spleen and break apart. This results in fewer numbers of red blood cells. The red blood cells contain hemoglobin, which carries oxygen to all parts and cells of the body. When the hemoglobin level is low, the person is anemic.

What are the Signs and Symptoms of HS?
The symptoms of hereditary spherocytosis vary depending on the severity of the disease. Most people with HS have mild or no anemia. In fact, many people are unaware that they have the mild form of the disease. Some will have a normal or only slightly low hemoglobin level. The body compensates for having a low hemoglobin by making more red blood cells. This process can be measured by the reticulocyte count. Reticulocytes are young, immature red blood cells that are only seen in high numbers when there is a reason the body must push extra red cells out into the circulation. The retic count measures how hard the body is working to maintain the level of hemoglobin it has. The spleen may be enlarged in some individuals with HS.

Certain conditions like infection, fever, and physical stress can lead to more red blood cell (hemoglobin) destruction than usual. If this occurs, the body will try to produce more red blood cells to keep up with the amount of destruction happening. The body’s ability to keep up with its losses can be measured by the reticulocyte count. If the body is able to produce enough red blood cells to keep up with the amount of red cell destruction happening in the spleen, the hemoglobin will stay the same (or drop only slightly) while the reticulocyte count increases. If the reticulocyte count is low, the body is not able to keep up with the red cell production demands, and the result is worsening anemia. In these cases, the spleen often becomes larger.

Hemolysis is the term for the process of red blood cells breaking apart.

One of the results of red cells breaking apart is an increased level of bilirubin. This results in jaundice, or a yellow tint to the skin and eyes. It will also turn the urine dark (tea or coke colored). Over a long period of time, increased jaundice can lead to development of gallstones.

Other important signs of anemia are: headache, shortness of breath, extreme fatigue, paleness, jaundice, fainting, irritability, sensations of dizziness or heart palpitations. In infants, restlessness and difficulty feeding, as well as sleeping too much or too long can be signs of anemia.

Blood cells (including red blood cells) are produced inside the bone marrow. There are certain infections (specifically, parvovirus, also called Fifth’s disease) which can cause the bone marrow to temporarily stop production of cells. This is called an aplastic crisis. The hemoglobin will fall and the body will not be able to produce many reticulocytes. It may take several days before the bone marrow is able to resume production of blood cells. In the mean while, this condition can result in severe anemia and may require red blood cell transfusions.

How is HS Diagnosed?
Blood tests to look at the amount of hemoglobin, the number of reticulocytes, and perhaps the level of bilirubin will be done. Additionally, the Hematologist will examine the blood cells under the microscope to determine the shape, size, and characteristics of the red blood cells.

The most useful blood test to diagnose HS is called an osmotic fragility. The patient’s red blood cells are placed in different concentrations of salt water (saline) for 24 hours. The cells absorb water while soaking in the saline solution, and eventually burst. Spherocytes do not tolerate the saline solution well and will burst their membranes sooner than normal cells.

How is HS Treated?
The symptoms of HS are treatable, but the inherited red blood cell defect is not curable. The treatment for young children and those with mild HS is daily oral folic acid. This is a vitamin supplement to help the bone marrow keep up with the production demands for red blood cells. Red blood cell transfusions may be necessary when severe anemia occurs.

For children over five years who have moderate or severe HS, surgical removal of the spleen (splenectomy) is the treatment of choice. Removing the spleen does not prevent the appearance of spherocytes, but it does cure the anemia and prevent the development of gallstones.

Since the spleen is a filter of bacteria for the body, removal of it can result in an increased risk of certain infections. To decrease this risk, certain additional vaccinations (pneumococcal and meningococcal) are given prior to removal of the spleen. After removal of the spleen, preventative antibiotics are taken by mouth daily to further lower the risk of infections.

How Do I Know When To Call The Doctor?

  • You are in a partnership with the medical team in caring for your child with hereditary spherocytosis. Your input and observations are important. You should consult the medical team for any of the following:
  • You notice that your child’s skin is more pale or yellow than usual, or that the whites of the eyes are more yellow than usual.
  • Your child is more tired than usual, having headaches or not acting right.
  • Your child has a fever of 101 or higher L>38.5 C).
  • You are concerned about your child’s health
  • Your child has difficulty with or refuses the medications prescribed.
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