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What is Thalassemia?

Thalassemia is an inherited disorder that causes the body to produce less healthy red blood cells. This condition causes mild to severe anemia. Anemia is a condition where a person does not have enough red blood cells or their red blood cells do not have enough hemoglobin. There is a variety of types of thalassemias and they are named according to severity of the disorder.

Fast Facts about Thalassemia

  • Thalassemia is inherited
  • People with this disorder can have mild or severe anemia
  • The condition causes the body to make lesser amount of healthy red blood cells
  • Patients develop symptoms which are due to the lack of oxygen in their blood stream
  • Thalassemia is diagnosed using blood tests
  • There is no way to prevent thalassemia other than through genetic counseling

Other Names for Thalassemia

Beta Thalassemias:

  • Beta-plus thalassemia
  • Beta thalassemia intermedia
  • Beta thalassemia minor, also known as beta thalassemia trait
  • Beta thalassemia major, also known as Cooley’s anemia or beta-zero thalassemia
  • Mediterranean anemia

Alpha Thalassemias:

  • Alpha thalassemia minor, also known as alpha thalassemia trait
  • Alpha thalassemia major, also called hydrops fetalis
  • Alpha thalassemia silent carrier
  • Hemoglobin H disease

Causes of Thalassemia

Red blood cells use a protein called hemoglobin to carry oxygen from the lungs to the body and bring carbon dioxide to the lungs to be exhaled. Alpha globin and beta globin are the two types of protein chains in hemoglobin. When any of these chains is missing your body cannot work well. The making of the hemoglobin chains is controlled by genes. Thalassemia occurs when these genes are altered or missing. Thalassemias is a genetic condition passed from parents to their children.

To make the alpha globin protein chain you need four genes. Each parent is responsible for two genes. The alpha thalassemias disease or trait means that at least one of these genes is absent. When this happens your body will not make enough protein called alpha globin.

  • Silent carriers are only missing one gene and will have no signs of this condition
  • Alpha thalassemia trait or alpha thalassemia minor means that two genes are missing and patient might have mild anemia
  • Hemoglobin H disease means that you are missing three genes and can have moderate to severe anemia. This type of thalassemia can be detected by a blood test
  • When a baby is missing all four genes, it is known as hydrops fetalis or thalassemia major. This condition is rare and will usually cause the baby to die shortly before or after birth

Two genes are needed to produce the right amount of beta globin protein chains. Your body will not make enough beta globin protein if either one or both of these genes are altered. This condition is known as beta thalassemia.

  • You are a carrier when you have one gene that is altered. This causes mild anemia and it is known as beta thalassemia minor or beta thalassemia trait
  • When both genes are altered, it causes either beta thalassemia intermedia or beta thalassemia major. Beta thalassemia major is also named Cooley’s anemia. Moderate anemia is the result of beta thalassemia intermedia and the major form of the disorder causes severe anemia

Risk Factors for Thalassemia

There are two risk factors for thalassemia. Ancestry, or where you are from, can put you at risk for the disorder. The people who are most at risk for beta thalassemias are people of Asian, African and Mediterranean decent. People of Chinese, Filipino, Indian and Southeast Asian decent have the highest risk of alpha thalassemias.

Family history is the other risk factor. This is because the genes that cause the disorder are passed to children from their parents. If a patient’s parents have altered or missing hemoglobin genes they may have thalassemia.

Symptoms of Thalassemia

The symptoms of thalassemia are caused by a lack of oxygen in the blood. The severity of the disorder will dictate how severe the symptoms are. The silent carriers of alpha thalassemia usually have no symptoms. Individuals who have the trait for both varieties of thalassemia can have mild anemia, although many people with these conditions have no symptoms. The anemia associated with the traits of both varieties is often misdiagnosed as iron-deficiency anemia.

Symptoms of Mild to Moderate Anemia:

  • Problems with the bones. Bone marrow expansion can be caused thalassemia. This can cause the bones to be bigger and brittle
  • The spleen can become enlarged because it has to work very hard in people with thalassemia. Anemia can be made worse by this and when the spleen becomes too large it has to be removed
  • Anemia can cause a delay in puberty and a child’s growth

Symptoms of Severe Anemia:

  • Dark urine
  • Jaundice
  • A listless and pale appearance
  • Reduced appetite
  • A delay in puberty and slow growth
  • Enlargement of the heart, liver and spleen
  • Problems with the bones, especially in the face

Although there are treatments available for patients who have moderate to severe thalassemia, they have to find a way to deal with the long term complications associated with these disorders. Iron overload can occur due to the blood transfusions that are needed to treat thalassemias. This build-up of iron over time damages tissues and organs, including the liver and heart. Iron overload induced heart disease is one of the main causes of death in patients with thalassemia.

People with thalassemias who have had their spleens removed are at high risk of infection. Infection is a very common cause of death in people with thalassemia. Osteoporosis is also common in people with these conditions.

Diagnosing Thalassemia

Blood tests are used to diagnose thalassemia. Special hemoglobin tests and complete blood count are used to diagnose the condition. Hemoglobin tests are used to measure the hemoglobin in a person’s blood. The complete blood count gives information about all different types of blood cells in a patient’s body and about the amount of hemoglobin they have.

Treatment Options for Thalassemia

The severity and type of thalassemia dictates what type of treatment is used. While some people with no symptoms or mild symptoms need no treatment, others are given three different standard forms of treatment.

  • Blood transfusions are given to supply the patient with red blood cells that are healthy and have normal hemoglobin levels
  • Iron chelation therapy is used to remove excessive amounts of iron from the body. This prevents the damage that iron overload can do to tissues and organs. There are two medications used for this therapy. Their names are deferoxamine and deferasirox
  • Patients may also be advised to take a folic acid supplement to help them make more healthy red blood cells

Prevention of Thalassemia

Since thalassemia is inherited, there are no ways to prevent it other than having genetic counseling before conceiving a child.

Coping with Thalassemia

One of the most important things a patient can do to protect their health when living with thalassemia is to stick with their iron chlelation therapy. Since heart disease triggered by iron overload is the leading cause of death in people with thalassemias, the iron chelation therapy is essential.

You should also keep all of your medical appointments and live healthy. This includes steps to ensure you do not get infections such as avoiding crowds during flu season and washing your hands frequently.

It is also important to get the help and support you need. You can reach out to friends and family and seek help from patient support groups for people living with thalassemia. Some people may need therapy to help them deal with anxiety and depression brought on by coping with this disease.

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