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.
Alpha thalassemia is caused by defects in the genes that control hemoglobin production.
There are 3 types:
Alpha thalassemia major (Hb Bart
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
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:
carrier can have the trait.
This means they have mild symptoms but can
pass the gene on to children.
carrier may be silent.
This means they don't have symptoms, but can
still pass the gene to their child.
Alpha thalassemia is passed from
parents to children. The way it is inherited varies and is complex. If both parents
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
- Mediterranean countries
- North Africa
- Middle East
- Central Asia
Sometimes children have few or no
symptoms. Symptoms of alpha thalassemia are from anemia. They range from mild to severe
- Pale or yellow skin
- Feeling tired
- Low appetite
- Dark urine
- Enlarged spleen, liver, or heart
- Bone problems
- Slowed growth and delayed puberty
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:
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.
A small sample of blood is checked under a microscope to see if
they look abnormal.
This test measures the types and amount of hemoglobin.
These tests look for gene defects. DNA testing can find carriers.
Treatment will depend on your
child’s symptoms, age, and general health. It will also depend on how severe the
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.
Hemoglobin H disease. Most
children with this type don’t need treatment, but treatment may include:
- A referral to a hematologist, an expert in blood
- Daily doses of folic acid, a vitamin vital to hemoglobin
- Blood transfusions, if hemoglobin levels drop
- Surgical removal of the spleen (rarely done)
Possible complications also depend
on the type of alpha thalassemia.
- Most babies with alpha thalassemia major are stillborn or die soon after birth.
- Children with hemoglobin H disease may have delayed growth and development.
Complications from the treatment of hemoglobin H disease may occur. For example,
- A child has an increased risk of infection if he or she has spleen removed.
- Iron overload may occur from frequent blood transfusions.
Your child should have their blood
checked regularly. Talk with your child's provider about how often it should be
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 to Call a Healthcare Provider
Call your child's healthcare
provider if your child has:
- Symptoms of anemia such as pale skin or tiredness
- 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 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.