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Alpha Thalassemia in Children

What is alpha thalassemia in children?

Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parent’s genes. It may cause anemia in their children. Anemia is low numbers of red blood cells or low hemoglobin level. Hemoglobin is a part of red blood cells. It carries oxygen to organs, tissues, and cells. Alpha thalassemia affects the production of hemoglobin.

There are different types of thalassemia. The severity of anemia depends on the type the child has.

What causes alpha thalassemia in a child?

Alpha thalassemia is caused by defects in the genes that control hemoglobin production. There are 3 types:

    • Alpha thalassemia major (Hb Bart syndrome). This is a very serious form that develops before birth. It causes hydrops fetalis. This is a condition in which the body has too much fluid and other serious problems. Most affected babies are stillborn. Or they die soon after birth. The mother can also have serious, life-threatening complications.
    • Hemoglobin H disease (HbH disease). Hemoglobin H disease causes anemia that ranges from mild to severe. The symptoms most often start in childhood. Affected people are at increased risk for having a child with alpha thalassemia major.
    • Alpha thalassemia carrier. There are 2 types of carriers:
        • A carrier can have the trait. This means they have mild symptoms but can pass the gene on to children.
        • A carrier may be silent. This means they don’t have symptoms, but can still pass the gene to their child.

Which children are at risk for alpha thalassemia?

Alpha thalassemia is passed from parents to children. The way it is inherited varies and is complex. If both parents have the gene defect, each of their children has a risk of having alpha thalassemia major. They are also at risk for having hemoglobin H disease, and of being a carrier.

The gene defect that causes alpha thalassemia is more common in people from these areas:

    • Mediterranean countries
    • North Africa
    • Middle East
    • India
    • Central Asia

What are the symptoms of alpha thalassemia in a child?

Sometimes children have few or no symptoms. Symptoms of alpha thalassemia are from anemia. They range from mild to severe and include:

    • Pale or yellow skin
    • Feeling tired
    • Low appetite
    • Dark urine
    • Enlarged spleen, liver, or heart
    • Bone problems

How is alpha thalassemia diagnosed in a child?

The healthcare provider will ask about your child’s symptoms and health history. They will give your child a physical exam. Your child may also have tests, such as:

    • Complete blood count (CBC). This test checks the red and white blood cells, blood clotting cells (platelets), and sometimes, young red blood cells. It includes hemoglobin and hematocrit and more details about the red blood cells.
    • Peripheral smear. A small sample of blood is checked under a microscope to see if they look abnormal.
    • Hemoglobin electrophoresis. This test measures the types and amount of hemoglobin.
    • DNA testing. These tests look for gene defects. DNA testing can find carriers.

How is alpha thalassemia treated in a child?

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.

Treatment also depends on the type of alpha thalassemia:

    • Alpha thalassemia major. There is no effective treatment for this type.
    • Alpha thalassemia trait. Most children with this type don’t need treatment.

A referral to a hematologist, an expert in blood disorders

Daily doses of folic acid, a vitamin vital to hemoglobin production

Blood transfusions, if hemoglobin levels drop suddenly

Surgical removal of the spleen (rarely done)

Hemoglobin H disease. Most children with this type don’t need treatment, but treatment may include:

What are possible complications of alpha thalassemia in a child?

Possible complications also depend on the type of alpha thalassemia.

Complications from the treatment of hemoglobin H disease may occur. For example,

How is alpha thalassemia managed in a child?

Your child should have their blood checked regularly. Talk with your child’s healthcare provider about how often it should be checked.

Your child should also be checked if they have a fever. Fevers can cause a drop in hemoglobin.

Talk with the healthcare provider about having genetic counseling.

When should I call my child’s healthcare provider?

Call your child’s healthcare provider if your child has:

Key points about alpha thalassemia in a child

    • Alpha thalassemia is an inherited blood disorder. It causes anemia.
    • It’s caused by changes in the genes that control the production of hemoglobin.
    • The types are alpha thalassemia major, hemoglobin H disease, and two forms of alpha thalassemia carrier.
    • Treatment depends on the type of alpha thalassemia. Many children don’t need treatment.

Next steps

Tips to help you get the most from a visit to your child’s healthcare provider:

    • Know the reason for the visit and what you want to happen.
    • Before your visit, write down questions you want answered.
    • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
    • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
    • Ask if your child’s condition can be treated in other ways.
    • Know why a test or procedure is recommended and what the results could mean.
    • Know what to expect if your child does not take the medicine or have the test or procedure.
    • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
    • Know how you can contact your child’s healthcare provider after office hours, and on weekends and holidays. This is important if your child becomes ill and you have questions or need advice.
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