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Hemoglobinopathies or sickle cell screening

Hemoglobinopathies are a group of inherited blood disorders that affect the number or shape of the red blood cells in the body. Sickle cell disease and thalassemia are the most common. These conditions can be very different from one another. Some hemoglobinopathies can cause life-threatening symptoms, while others do not cause medical problems or even signs of the condition. Mild hemoglobinopathies may require no medical treatment. However, when severe cases are left untreated, they can cause a shortage of red blood cells (anemia), organ damage or even death. Fortunately, when severe hemoglobinopathies are identified and treated early in life, affected children often can lead healthy lives.

Who is at risk

Since the conditions are inherited, risk factors depend on family history and ancestry.

Symptoms

Early signs of a hemoglobinopathy include:

  • Sleeping longer or more often
  • Tiredness
  • Shortness of breath
  • Pain or swelling in the hands or feet
  • Cold hands or feet
  • Pale skin

What you can do

  • Follow a healthy eating plan as directed by the pediatrician.
  • Take medications and supplements as directed.
  • Get vaccinations as needed.
  • Watch for signs of infection.
  • Take steps to lower risk of infection:
    • Wash hands often.
    • Avoid crowds during cold and flu season.

Tips for Health Living

Managing Pain

Preventive service at no cost

All newborns have the blood test to identify hemoglobinopathies.

Why screening is important

Hemoglobinopathies can have severe complications such as heart and liver diseases or infections. The earlier the diagnosis, the earlier treatment can begin.

What the screening is

It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition.

Treatment

Apart from bone marrow transplantation, there is no curative treatment for hemoglobin disorders. Management for newborns affected with sickling diseases typically involves oral penicillin given daily and maintained throughout childhood, and vaccination against pneumonia, meningitis, and flu. Children with thalassemia may receive blood transfusions.

The pediatrician may recommend medications to remove excess iron or folic acid supplements.

Because the diagnosis and therapy of this disorder is complex, your child’s pediatrician may recommend specialty care.

Additional tips

Keep all scheduled medical appointments, including well child visits, and have any tests that the pediatrician recommends.

Resources