It is a disorder that causes red blood cells to have spherical shapes instead of flattened discs that curve inward.
In a healthy body, the spleen begins the response of the immune system to infections. The spleen filters bacteria and damaged cells out of the bloodstream. However, spherocytosis makes it difficult for red blood cells to cross the spleen due to the shape and stiffness of the cells.
The irregular shape of red blood cells can make the spleen decompose faster. This process of decomposition is called hemolytic anemia . A normal red blood cell can live up to 120 days, but red blood cells with hereditary spherocytosis can live for 10 to 30 days.
Symptoms of Spherocytosis
Hereditary spherocytosis can vary from mild to severe. The symptoms vary according to the severity of the disease.
Anemia: Spherocytosis causes red blood cells to break down faster than healthy cells, which can cause anemia. If spherocytosis causes anemia, it may appear paler than normal. Other common symptoms of anemia due to hereditary spherocytosis may include:
- Difficulty breathing.
- Dizziness or lightheadedness
- Incrise of cardiac frecuency.
- Heart palpitations.
- Jaundice .
When a globule decomposes, the pigment bilirubin is released. If your red blood cells break down too quickly, this causes too much bilirubin in the bloodstream.
An excess of bilirubin can cause jaundice. Jaundice causes the skin to turn yellow or tan. The white of the eyes can also turn yellow.
Gallstones: Excess bilirubin can also cause gallstones, which can develop in the gallbladder when too much bilirubin accumulates in the bile. You may not have any symptoms of gallstones until they cause a blockage.
Symptoms may include:
- Sudden pain in the upper right abdomen or below the sternum.
- Sudden pain in his right shoulder.
- Decreased appetite.
Symptoms in children
Babies may show slightly different signs of spherocytosis. Jaundice is the most common symptom in newborns, rather than anemia, especially in the first week of life. Call your child’s pediatrician if you notice that your baby:
- It has yellowing of the eyes or skin.
- It is restless or irritable.
- He has difficulty feeding.
- Sleep too much
- It produces less than six wet diapers per day.
The onset of puberty may be delayed in some children. In general, the most common findings in hereditary spherocytosis are anemia, jaundice and enlarged spleen.
Hereditary spherocytosis is caused by a genetic defect. If you have a family history of this disorder, your chances of developing it are higher than those of someone who does not. People of any race may have hereditary spherocytosis, but it is more common in people of descent from northern Europe.
How is it diagnosed
It is diagnosed more frequently in childhood or early adulthood. In about 3 out of 4 cases, there is a family history of the condition. Your doctor will ask about the symptoms you have. They will also want to know about your family and medical history.
Your doctor will perform a physical exam. Check if there is an enlarged spleen , which is usually done by feeling different regions of your abdomen.
Your doctor may also draw your blood for the test. A complete blood count test will monitor all blood cell levels and the size of your red blood cells.
Other types of blood tests can also be useful. For example, seeing your blood under a microscope allows the doctor to see the shape of your cells, which can help you determine if you have the disorder. Your doctor may also order tests to monitor your bilirubin levels.
Gallstones: Gallstones are common in hereditary spherocytosis. Some research has shown that up to half of people will develop gallstones when they are between 10 and 30 years old. Gallstones are hard deposits similar to pebbles that form inside the gallbladder.
They vary a lot in size and number. When they obstruct the gallbladder duct systems, they can cause severe abdominal pain, jaundice, nausea and vomiting.
It is recommended that people with gallstones surgically remove their gallbladder.
Enlarged spleen : An enlarged spleen is also common in this condition. It is estimated that approximately 7 out of 10 people with HS will develop an enlarged spleen. A splenectomy , or procedure to remove the spleen, can resolve the symptoms, but it can lead to other complications.
The spleen plays an important role in the immune system, so its removal can increase the risk of certain infections. To help lower this risk, your doctor may give you certain vaccines (including Hib, pneumococcal, and meningococcal) before you remove the spleen.
Some research has tried to eliminate only part of the spleen to reduce the risk of infections. This can be especially useful in children.
After your spleen is removed, your doctor will give you a prescription for preventive antibiotics that you take orally every day. Antibiotics can help reduce the risk of infections even more.
Treatment options for Spherocytosis
There is no cure, but it can be treated. The severity of your symptoms will determine what course of treatment you will receive. The options include:
Surgery : In moderate or severe disease, removal of the spleen can prevent common complications that result from hereditary spherocytosis. Your red blood cells will still have their spherical shape, but they will live longer. Removing the spleen can also prevent gallstones.
Not all people with this condition should have their spleen removed. Some mild cases can be treated without surgery. Your doctor may think that less invasive measures are more appropriate for you. For example, surgery is not recommended for children under 5 years of age.
Vitamins: Folic acid, a B vitamin, is usually recommended for all people with the condition. It helps you to produce new red blood cells. A daily dose of oral folic acid is the main treatment option for young children and people with mild cases of HS.
Transfusion: You may need red blood cell transfusions if you have severe anemia.
Light therapy: the doctor could use light therapy, also called phototherapy, for severe jaundice in babies.
Vaccination: Getting routine and recommended vaccines is also important to prevent the complications of infections. Infections can trigger the destruction of red blood cells in people with the condition.
Your doctor will develop a treatment plan for you based on the severity of your illness. If your spleen is removed, you will be more susceptible to infections. You will need lifelong preventive antibiotics after surgery.
If the condition is mild, you should take your supplements according to the instructions. You should also check with your doctor regularly to make sure the condition is well managed.