Beta Thalassemia

What Is Beta Thalassemia?

Beta thalassemia is an inherited blood disorder in which the body doesn't make hemoglobin normally. Hemoglobin is the part of red blood cells (RBCs) that carries oxygen throughout the body. The abnormal hemoglobin can lead to anemia (not enough RBCs in the body) and other medical problems.

Depending on the type of beta thalassemia, symptoms can be mild or very severe. There are treatments that can help with symptoms.

What Are the Different Types of Beta Thalassemia?

The three types of beta thalassemia (BAY-tuh thahl-uh-SEE-mee-uh) are:

• Beta thalassemia minor (also called beta thalassemia trait). People with beta thalassemia minor may have mild anemia, but usually don't need any medical treatment.
• Beta thalassemia intermedia. People with beta thalassemia intermedia have moderately severe anemia and some will need regular blood transfusions and other medical treatment. The blood transfusions deliver healthy hemoglobin and RBCs to the body.
• Beta thalassemia major (also called Cooley's anemia). People with beta thalassemia major have severe symptoms and life-threatening anemia. They need regular blood transfusions and other medical treatment.

What Are the Signs & Symptoms of Beta Thalassemia?

People with beta thalassemia trait usually do not have any symptoms.

Children with beta thalassemia intermedia or major may not show any symptoms at birth, but usually develop them in the first 2 years of life. They may have symptoms of anemia, such as:

• tiredness
• shortness of breath
• a fast heartbeat
• pale skin
• yellow skin and eyes (jaundice)
• moodiness
• slow growth

People with beta thalassemia major or intermedia usually have a buildup of iron in the body, either from the disease itself or from the repeated blood transfusions. Excess iron can damage the heart, liver, and endocrine system.

People with beta thalassemia major may have other serious health problems, including:

• bone deformities and broken bones from changes in the bone marrow (where RBCs are made)
• an enlarged spleen because the organ works harder than normal. Doctors might need to remove the spleen if it gets too big.
• infections, especially if doctors removed the spleen (the spleen helps fight some infections)

What Causes Beta Thalassemia?

Hemoglobin is made of two alpha proteins and two beta proteins. A gene change (mutation) in the alpha proteins causes alpha thalassemia. A gene change in the beta proteins causes beta thalassemia.

In beta thalassemia, the gene change causes an imbalance of hemoglobin proteins. The imbalance causes anemia because:

• Red blood cells break down faster than normal.
• Fewer RBCs are made.
• Less hemoglobin is made.

The imbalance also leads to medical problems in the bones, bone marrow, and other organs.

Who Gets Beta Thalassemia?

People inherit the genes for beta thalassemia from their parents. A child gets one beta protein gene from the mother and one from the father:

• Someone who inherits the gene change in the beta protein from one parent has beta thalassemia minor (beta thalassemia trait).
• Someone who inherits a gene change in both beta proteins (one from each parent) has beta thalassemia intermedia or beta thalassemia major (Cooley's anemia).

Sometimes a beta thalassemia gene change can be inherited with a sickle cell gene change. This results in sickle beta thalassemia, a type of sickle cell disease. A genetic counselor can help families understand the different ways beta thalassemia runs in families.

How Is Beta Thalassemia Diagnosed?

If a woman is pregnant and both parents have beta thalassemia trait, doctors can check the fetus by:

• Chorionic villus sampling (CVS): Done about 11 weeks into pregnancy, this involves removing a tiny piece of the placenta for testing.
• Amniocentesis: Usually done about 16 weeks into the pregnancy, this involves removing a sample of the fluid that surrounds the fetus to check for signs of problems.

Young children may be diagnosed with a blood test if they develop anemia, have a swollen belly (from an enlarged spleen), or have poor growth. The blood tests include one or both of these:

• hemoglobin electrophoresis
• test for abnormal hemoglobin genes

How Is Beta Thalassemia Treated?

Treatment depends on what kind of beta thalassemia someone has.

Kids with beta thalassemia trait usually don't need treatment.

Children and adults with beta thalassemia major need lifelong medical care that includes:

• regular blood transfusions about every 2-4 weeks
• medicines to remove extra iron from their bodies (called chelation)

People with beta thalassemia intermedia may need blood transfusions and chelation (key-LAY-shun) but not as often as people with beta thalassemia major.

Blood transfusions and chelation do not cure beta thalassemia. A stem cell transplant can cure it, but it is a serious procedure with many risks and won't benefit everyone with the condition. Doctors and scientist are working on developing gene therapies and other treatments to help people with beta thalassemia.

How Can Parents Help Kids With Beta Thalassemia Trait?

A child who has beta thalassemia trait doesn't need any special care. Your child may want to talk to a genetic counselor someday to understand how beta thalassemia runs in families.

Be sure to tell all health care providers that your child has beta thalassemia trait. This way, when the mild anemia shows up on blood tests, the providers will know the cause.

How Can Parents Help Kids With Beta Thalassemia Intermedia or Major?

Children with beta thalassemia intermedia or major need lifelong medical care. With regular health care, kids with beta thalassemia intermedia and major can live well into their 50s. The best way for your child to live his or her healthiest life is to get regular medical care, which includes transfusions and chelation.

It is important to establish a health care team for your child. If you live near a Thalassemia Treatment Center, the center will help you put the team together. The team should include:

• a hematologist (a doctor who specializes in blood disorders)
• doctors to treat problems from iron overload, including:
  • an endocrinologist (a doctor who specializes in organs that make hormones)
  • a cardiologist (heart doctor)
  • a gastrointestinal doctor (a doctor who specializes in the digestive tract)
  • an infectious disease doctor to help treat any infections
  • a dietitian to help with meal planning and any vitamin supplements that are needed
  • a primary care doctor to help with routine care
  • a case manager (a nurse or other provider who coordinates your child's medical care)
  • a social worker to help with insurance information and your child's schooling, and to support you, your child, and your family
  • a psychologist to help caregivers and your child cope with thalassemia

What Else Should I Know?

If your child has beta thalassemia intermedia or beta thalassemia major, it can be a challenge for your family to manage the medical care and the thoughts and feelings that come with the illness. It can help to:

• Find support through:
  • your child's care team, especially the social worker or psychologist
  • other families who have a child with beta thalassemia
  • friends and family
• Help your child see the opportunities he or she has, not the limitations.
• Manage your own stress level by taking care of yourself and doing things that you enjoy.
• Include siblings of the child with thalassemia. Show them that they can have a role, such as keeping their sibling company during transfusions or just being there to listen.

You also can learn more about beta thalassemia online at:

• Thalassemia.org (The Cooley's Anemia Foundation Website)
• Centers for Disease Control and Prevention (CDC)
• Thalassaemia International Federation