Heart and Blood Conditions

Thalassemia Symptoms and Diagnosis

Symptoms of Thalassemia

Some children with mild thalassemia have no symptoms at all. In children who do, symptoms of thalassemia can range from mild to severe.

Some children with symptoms have only mild anemia. They may feel tired or irritable; be short of breath, dizzy or lightheaded; or have pale skin, lips or nail beds compared to their normal color.

In more severe cases, they may also have these symptoms:

  • Heart palpitations
  • Jaundice - yellow color in the whites of the eyes; maybe yellow tint in the skin for some skin colors
  • Enlarged liver or spleen
  • Enlarged bones, mainly in the cheeks and forehead
  • Slowed growth - which may include later puberty - due to anemia

Over time, thalassemia may play a part in other health problems that can cause symptoms, such as heart disease, infections and weak, brittle bones (osteoporosis). Getting ongoing health care can help prevent or treat complications like these.

Thalassemia Diagnosis

If your child's thalassemia is mild, you may not notice any symptoms, and doctors may not diagnose it until a routine blood test reveals anemia. Then the doctor will do more blood tests to learn the cause of the anemia. These may include tests for other types of anemia, such as iron-deficiency anemia.

If your child does have clear symptoms, the doctor will start blood tests to find out the cause.

A test called a complete blood count (CBC) tells the doctor the amount of different kinds of cells in your child's blood. Having fewer red blood cells and less hemoglobin are signs of thalassemia. Blood tests can also give the doctor details about the size of the cells. People with thalassemia trait tend to have smaller red blood cells. The doctor will use other blood tests to check whether your child's hemoglobin is normal.

Babies can also be tested before birth for the genes that cause thalassemia, if their parents want this testing. It's done by checking a sample of amniotic fluid (which surrounds the baby in the womb) or cells from the placenta (which grow in the womb with the baby and connects the baby to the mother) and should be discussed with your doctor.