Thalassemia (Paediatric Hemato Oncology)

Acute
Benign Disorders

What is Thalassemia?

Thalassemia is an inherited blood disorder that causes the body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving the patient fatigued.

There are several types of thalassemia. The signs and symptoms depend on the type and severity of the condition.

Thalassemia signs and symptoms can include:

  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine

Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life. Some people who have only one affected hemoglobin gene don't have thalassemia symptoms.

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

  • Chorionic villus sampling. Usually done around the 11th week of pregnancy, this test involves removing a tiny piece of the placenta for evaluation.
  • Amniocentesis. Usually done around the 16th week of pregnancy, this test involves examining a sample of the fluid that surrounds the fetus.

How is it diagnosed?

How is it diagnosed?

Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests.

It is important to make timely diagnosis to save the life of the child. It is also necessary to go for genetic counseling.

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