What is thalassemia?

Thalassemia is a type of inherited blood disorder passed from a parent's genes to their children. Since it is a genetic problem, there is no known prevention for thalassemia.

Blood is made up of red blood cells, white blood cells, platelets and plasma. Hemoglobin is an iron-rich protein in red blood cells that helps the red blood cells carry oxygen from the lungs to the rest of the body. Thalassemia causes the body to make fewer healthy red blood cells and less hemoglobin than it needs for regular functions.

Thalassemia affect males and females and occurs most often among people of Italian, Greek, Middle Eastern, Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions. The two types of thalassemia are: alpha-thalassemia and beta-thalassemia.

What are the symptoms of thalassemia?

Anemia, or lack of oxygen in the bloodstream, causes the signs and symptoms of thalassemia. The severity of symptoms depends on the type and severity of the disorder.

Symptoms of mild to moderate anemia include:

  • fatigue
  • slowed growth and development
  • delayed puberty
  • additional health problems may include brittle bones and enlarged spleen

Severe thalassemia produces symptoms in the first two years of life, including:

  • pale and listless appearance
  • poor appetite
  • dark urine
  • slowed growth and development
  • jaundice or yellow tint to skin and eyes
  • enlarged spleen, liver, and heart
  • bone problems, especially bones in the face

How is thalassemia diagnosed?

Thalassemia is diagnosed using blood tests, including a complete blood count (CBC) and specific hemoglobin tests. People who have alpha or beta thalassemia trait may have smaller than normal red blood cells.

Moderate and severe thalassemia is usually diagnosed in early childhood within the first two years of life.

Since thalassemia is passed to children through parental genes, family genetic studies can help diagnose the disorder. These studies involve recording a family medical history and doing blood tests on family members.

Prenatal testing can also be done to diagnose thalassemia.

How is thalassemia treated?

Treatment for thalassemia depends on the type and severity of the disorder. Those with mild anemia symptoms may require no treatment, while others with more severe anemia require frequent medical treatment.

Those displaying moderate and severe forms of thalassemia may need blood transfusions, iron chelation therapy, and folic acid supplements. Other treatments, including bone marrow and stem cell transplants, may be used in rare cases.

What outcomes are available for thalassemia?

Treatment for thalassemia has improved greatly in recent years. Children diagnosed with mild or moderate thalassemia that follow careful, detailed treatment plans can expect to live a normal quality of life.

Those with moderate or severe thalassemia must also closely follow their treatment plans, and yet are at risk for experiencing a number of complications. A healthy lifestyle including frequent follow up visits help children diagnosed with thalassemia be as healthy as possible.

About treatment of thalassemia at Children's

Children's Hospitals and Clinics of Minnesota offer a full range of health services to diagnose and treat thalassemia. Our health care staff creates an individual plan for each child, and educates the entire family on how to create the healthiest atmosphere for growth and development.

For children with a more severe type of thalassemia, our team tracks indicators like growth, spleen size, and severity of the anemia on a continuing basis to address any issues before a more serious condition develops.

Children's also offers genetic counseling for parents who carry the gene mutation who want to know the risks of passing it down to their children.

Contact us

If you are a family member looking for a Children's hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children's – Minneapolis at (612) 813-5940

If you are a health professional looking for consultation or referral information, please call Children's Physician Access at 1-866-755-2121 (toll-free).