Dr. Gillaspy has taught health science at University of Phoenix and Ashford University and has a degree from Palmer College of Chiropractic.
If you ever tossed around a Frisbee on the beach, you know that these flying discs easily travel through the air because of their aerodynamic shape. Red blood cells are much like Frisbees in that they are somewhat disc-shaped, and this unique shape allows them to travel freely through your blood vessels.
However, in a person with hemolytic anemia, it is not uncommon to see an abnormality in the shape of the red blood cell. This deformity leads to the premature destruction of red blood cells and the development of anemia. This is what happens in a person with hereditary spherocytosis. Hereditary spherocytosis is a type of inherited hemolytic anemia in which the red blood cells are sphere-shaped due to a defect of the cell membrane. The symptoms and cause of hereditary spherocytosis will be the focus of this lesson.
We see that 'hereditary' spherocytosis is an 'inherited' disorder. Therefore, there is nothing you do or come in contact with that causes the condition; instead you receive a defective gene from your parents. You are at higher risk of this genetic defect if you are of northern European descent, but it can show up in other ethnic groups.
Specifically, we see that there is a defect in the protein that makes up the red blood cell membrane or outer covering. This defect turns the flat, disc-like red blood cell into a sphere or ball shape, much like a Frisbee turning into a basketball.
Now, before we go any further, did you pick up on the fact that the word 'sphere' is hidden in this condition's name, hereditary spherocytosis? We also see the word 'cyto,' which refers to 'cell.' This condition's name is one of the easier ones to recall because you could literally translate 'hereditary spherocytosis' into 'inherited sphere-shaped cells.'
Okay, let's go back to this defective cell membrane. This change in shape makes it harder for the red blood cells to pass through your spleen. And passing through your spleen with ease is very important because your spleen is the organ that acts as a filter for old or defective red blood cells. If you are sending deformed red blood cells through your spleen, then your spleen is destroying them rapidly. This is why hereditary spherocytosis is a type of hemolytic anemia. Your red blood cells get destroyed prematurely and your body cannot make enough new ones to keep up with the pace.
So it's pretty easy to see that some of the symptoms of hereditary spherocytosis are going to be similar to those we would see in any other type of hemolytic anemia. Therefore, the person may develop jaundice, which is a yellowing of the skin and eyes. Jaundice appears as a result of the rapid breakdown of red blood cells, which, when broken down, release a yellowish pigment called bilirubin. Because red blood cells are being destroyed quickly, bilirubin builds up in the blood, leading to the yellowish tint of the body tissues.
Now, if you think about it, this rapid destruction of red blood cells means that there are fewer red blood cells in circulation. And because your red blood cells transport oxygen around your body, that means your body is having trouble keeping up with the oxygen demand.
This would lead to other common symptoms, such as fatigue, shortness of breath, dizziness, pale skin and irritability. Because the heart would work harder to try to keep up with demand, you could also expect to experience a rapid heartbeat.
In addition to these symptoms, there are a couple of signs and symptoms that can be more specifically related to hereditary spherocytosis. For example, splenomegaly, which is an enlarged spleen, might be seen due to the fact that the spleen has to work overtime in order to remove the deformed red blood cells. The pressure from this enlargement can contribute to upper abdominal pain because the spleen is located in the upper-left side of the abdomen, pretty close to the left side of your stomach. Of course, we should also mention that pain could be felt in the right-upper abdomen as well. This would be due to gallstones within the gallbladder. The development of gallstones is a complication caused by the high levels of bilirubin that are circulating around the body that can form into these stones.
Let's review. Hereditary spherocytosis is a type of inherited hemolytic anemia in which the red blood cells are sphere-shaped due to a defect of the cell membrane. You are at higher risk of this condition if you are of northern European descent. The genetic defect affects the protein that makes up the red blood cell membrane, causing the red blood cells to take on the sphere or ball-like shape. This abnormal shape marks the cell for destruction within the spleen.
Symptoms of hereditary spherocytosis include symptoms that are common to any hemolytic anemia, such as jaundice, fatigue, shortness of breath, dizziness, pale skin, irritability and a rapid heartbeat, but may also include additional signs and symptoms, such as splenomegaly, which is an enlarged spleen. This, along with gallstones, could contribute to upper abdominal pain.
See this educational video lesson in its entirety in order to:
- Understand the meaning of the term, 'hereditary spherocytosis'
- Remember a cause of and a risk factor for hereditary spherocytosis
- List some symptoms of the condition
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