Hereditary Spherocytosis

What is Hereditary Spherocytosis

Hereditary spherocytosis (HS) is a type of anemia that can be passed along from parent to child (inherited). Anemia is the condition of not having enough healthy red blood cells in the body. Red blood cells are made in spongy tissue inside of bones (bone marrow), and they carry oxygen in the blood.

Normal red blood cells are disc-shaped and flexible. This allows them to flow through small blood vessels easily. Children who have HS have red blood cells that are round and rigid because of abnormal proteins on the red blood cells. The cells get caught in the organ that is involved in removing red blood cells from the body (spleen), and the cells break apart (hemolysis). Also, red blood cells in a child with HS do not live as long as red blood cells in a child without HS.

Anemia may develop if your child is losing more red blood cells from HS than the bone marrow can replace. The condition can range from mild to severe.

What are the causes?

HS is caused by abnormal genes (genetic mutations). These genetic mutations may be inherited.

What increases the risk?

Your child is more likely to develop this condition if he or she has a family history of HS. People of Northern European descent are more likely to carry HS genes.

What are the signs or symptoms?

Mild cases of HS may have few symptoms or no symptoms. Symptoms of moderate to severe cases of HS may include:

  • Tiredness (fatigue).
  • Pale skin (pallor).
  • Yellowing of the skin or the whites of the eyes (jaundice).
  • Pain in the upper abdomen, on the left or right side.
  • Fever.

Sometimes, the bone marrow temporarily stops making red blood cells (aplastic crisis). Aplastic crisis can result from infection, injury, fatigue, or stress. This can cause symptoms such as:

  • Increased fatigue.
  • Pallor.
  • New or worse jaundice.
  • Abdominal pain.
  • Fever.
  • Shortness of breath.
  • Headache.
  • Appetite loss.
  • Vomiting.
  • Nosebleeds.

How is this diagnosed?

This condition may be diagnosed based on:

  • Your child’s symptoms and medical history.
  • A physical exam.
  • Blood tests. Your child may have blood tests if he or she has a family history of HS, even if your child has no symptoms. Your child may have blood tests to:
    • Look for abnormally shaped red blood cells under a microscope.
    • Measure the amount of hemoglobin in red blood cells. Hemoglobin is a substance in red blood cells that carries oxygen to the tissues of the body.
    • Measure the number of new red blood cells (reticulocytes).
    • Measure the amount of bilirubin in the blood. Bilirubin is a substance that is produced when red blood cells are broken down.
    • Test how well red blood cells can survive (osmotic fragility).

How is this treated?

Treatment depends on your child’s symptoms. Mild cases of HS may not need treatment. Your child’s treatment may include:

  • Receiving a type of B vitamin that helps bone marrow produce new red blood cells (folic acid).
  • Receiving donated red blood cells (getting a transfusion), if your child has an aplastic crisis.
  • Having surgery to remove:
    • Part or all of the spleen (splenectomy). Children with frequent or serious symptoms of HS may need a splenectomy. Partial or total splenectomy reduces or eliminates most symptoms of HS. This surgery is usually done after age 6.
    • The gallbladder (cholecystectomy).

Follow these instructions at home:

  • Give your child over-the-counter and prescription medicines only as told by your child’s health care providers. This includes any folic acid supplements.
  • Make sure your child is up to date on all required vaccinations. This may reduce infections that can trigger aplastic crisis.
  • Have your child rest at home when he or she experiences symptoms.
  • Have your child return to normal activities as told by your child’s health care provider. Ask your child’s health care provider what activities are safe for your child.
  • Keep all follow-up visits as told by your child’s health care provider. This is important.

Contact a health care provider if:

  • Your child has a fever.
  • Your child develops new symptoms.
  • Your child’s symptoms are getting worse.
  • Your child has symptoms of aplastic crisis.
  • Your child has a sudden fever along with pain in the upper right abdomen.
  • Your child has severe pain in the upper left abdomen.
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