Hereditary Spherocytosis

Overview

Hereditary spherocytosis (HS) is a rare genetic disorder that affects the production of red blood cells. It is characterized by the production of abnormal, sphere-shaped red blood cells that are prone to premature destruction. This can lead to anemia, jaundice (yellowing of the skin and eyes), and other complications.

Symptoms

Common symptoms of hereditary spherocytosis include:

  • Anemia
  • Jaundice (yellowing of the skin and eyes)
  • Fatigue or weakness
  • Pale skin
  • Shortness of breath
  • Headaches
  • Dizziness or lightheadedness

Causes

Hereditary spherocytosis is caused by a genetic mutation that affects the production of red blood cells. This mutation can be inherited from one’s parents, and it is more common in people of European descent.

Diagnosis

Diagnosing hereditary spherocytosis typically involves:

  • Blood tests to check for abnormal red blood cells
  • Physical exam and medical history
  • Genetic testing to identify the genetic mutation
  • Imaging tests, such as ultrasound or CT scans, to check for spleen enlargement

Treatment Options

Treatment for hereditary spherocytosis usually involves:

  • Splenectomy (removal of the spleen) to reduce the destruction of abnormal red blood cells
  • Blood transfusions to increase red blood cell count
  • Folic acid supplements to support red blood cell production
  • Iron supplements to support red blood cell production
  • Avoiding triggers that can exacerbate the condition, such as certain medications or infections

Patient Success Stories

At Gertrude’s Children’s Hospital, we are committed to providing the best possible care for children with Hereditary Spherocytosis. Here’s why families trust us:

“My son was diagnosed with hereditary spherocytosis when he was just a toddler. The team at Gertrude's Children's Hospital was amazing - they worked with us to develop a personalized treatment plan that has helped him manage his symptoms and prevent complications.”

Rachelparent of a child with hereditary spherocytosis

Living with Hereditary Spherocytosis in children

Hereditary spherocytosis is a specific genetic disorder that affects the production of red blood cells. Other blood disorders, such as sickle cell disease or thalassemia, affect different aspects of red blood cell production.

There is no cure for hereditary spherocytosis, but with proper treatment and management, most people with the condition can lead active and healthy lives.

You can reduce your risk of developing hereditary spherocytosis by maintaining a healthy lifestyle, including a balanced diet, regular exercise, and not smoking.

Contact Us

If you suspect that your child may have hereditary spherocytosis, we encourage you to schedule an appointment with our hematology clinic. Our team of experienced healthcare professionals is here to support you and your child every step of the way.

Contact us today to schedule an appointment or to learn more about our hereditary spherocytosis treatment program.

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