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 the part of red blood cells.
It carries oxygen to organs, tissues, and cells. Alpha thalassemia affects the production
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 he or she has mild symptoms but can pass
the gene on to children.
A carrier may be silent. This means he or she doesn’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
What are the symptoms of alpha thalassemia in a child?
Symptoms of alpha thalassemia are from anemia. They range from mild to severe and
Pale or yellow skin
How is alpha thalassemia diagnosed in a child?
The healthcare provider will ask about your child’s symptoms and health history. He
or she will give your child a physical exam. Your child may also have tests, such
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.
Alpha thalassemia trait. Most children with don’t need treatment.
Hemoglobin H disease. Most children with don’t need treatment, but treatment may include:
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)
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 his or her blood checked regularly. Talk with your child's
provider about how often it should be checked.
Your child should also be checked if he or she has a fever. Fevers can cause a drop
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 he or she has:
Key points about alpha thalassemia in a child
Alpha thalassemia is an inherited blood disorder. It cause 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 2 forms of alpha
Treatment depends on the type of alpha thalassemia. Many children don’t need treatment.
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 provider after office hours. This is important
if your child becomes ill and you have questions or need advice.