Thalassemia

Thalassemia is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal.

Symptoms

Thalassemia symptoms include:

• Fatigue
• Weakness
• Pale appearance
• Yellow discoloration of skin (jaundice)
• Facial bone deformities
• Slow growth
• Abdominal swelling
• Dark urine

When to see a doctor

Make an appointment with your child’s doctor for an evaluation if he or she has any signs or symptoms that worry you.

Risk factors

Factors that increase your risk of thalassemia include:

• Family history of thalassemia. Thalassemia is passed from parents to children through mutated hemoglobin genes. If you have a family history of thalassemia, you may have an increased risk of the condition.
• Certain ancestry. Thalassemia occurs most often in people of Italian, Greek, Middle Eastern, Asian and African ancestry.

Complications

Possible complications of thalassemia include:

• Iron overload.
• Bone deformities.
• Enlarged spleen (splenomegaly).
• Slowed growth rates.
• Heart problems. Heart problems, such as congestive heart failure and abnormal heart

rhythms (arrhythmias), may be associated with severe thalassemia.

Tests and diagnosis

If your child has thalassemia, blood tests may reveal:

• A low level of red blood cells
• Smaller than expected red blood cells
• Pale red blood cells
• Red blood cells that are varied in size and shape
• Red blood cells with uneven hemoglobin distribution, which gives the cells a bull’s-eye appearance under the microscope

Blood tests may also be used to:

• Measure the amount of iron in your child’s blood
• Evaluate his or her hemoglobin
• Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes

Prenatal testing

Testing can be done before a baby is born to find out if it has thalassemia and determine how severe it may be. Tests used to diagnose thalassemia in fetuses include:

• Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.

Treatments and drugs

Treatment for thalassemia depends on which type you have and how severe it is.

Treatments for mild thalassemia

Signs and symptoms are usually mild with thalassemia minor and little, if any, treatment is needed. Occasionally, you may need a blood transfusion, particularly after surgery, after having a baby or to help manage thalassemia complications.

Some people with beta-thalassemia intermedia may need treatment for iron overload.

Treatments for moderate to severe thalassemia

Treatments for moderate to severe thalassemia may include:

• Frequent blood transfusions.
• Stem cell transplant.

Lifestyle and home remedies

If you have thalassemia, be sure to:

• Avoid excess iron.
• Eat a healthy diet.
• Avoid infections.

Prevention

In most cases, thalassemia can’t be prevented. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance before you have or father a child.