Pediatric Alpha Thalassemia

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 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 three 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.

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

Call your child's healthcare provider if he or she has:

• Fever
• Symptoms of anemia such as pale skin or tiredness

Symptoms of alpha thalassemia are from anemia. They range from mild to severe and include:

• Pale or yellow skin
• Feeling tired
• Poor appetite
• Dark urine
• Enlarged spleen
• Bone problems

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 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 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 this don’t need treatment.
• Hemoglobin H disease. Most children with this 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)

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 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 in hemoglobin.

Talk with the healthcare provider about having genetic counseling.