Alpha Thalassemia in Children
Overview
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.
Causes
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.
Risk Factors
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
Symptoms
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
- Slowed growth and delayed puberty
Diagnosis
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.
Treatment
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.
-
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
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)
Complications
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 they have spleen removed.
- Iron overload may occur from frequent blood transfusions.
Living with
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 to Call a Healthcare Provider
Call your child's healthcare
provider if your child has:
- Fever
- Symptoms of anemia, such as pale skin
or tiredness
Key Points
- 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.