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Pediatric Thalassemia

Thalassemia is a complex disease that children inherit from their parents. It is a blood disease that can cause anemia (a lack of sufficient red blood cells), among many other symptoms.

What is Pediatric Thalassemia?

Basically, in thalassemia there is an imbalance in the proteins that usually form hemoglobin, which is the element in blood that makes it red, and allows it to transform oxygen throughout the body. Because of these problems, the red blood cells are abnormal; they are pale instead of a rich red in color and they don't function properly.

What are the different types of Pediatric Thalassemia?

Alpha thalassemia

  • Silent carrier, which doesn't cause symptoms
  • An alpha thalassemia trait that can cause mild anemia
  • Hb H disease, which causes mild to moderately severe anemia, and an enlarged spleen (the organ that removes abnormal red blood cells from circulation)
  • Alpha thalassemia major is the most severe type. A developing fetus with this type of thalassemia needs a blood transfusion while still in the womb to survive.

Beta thalassemia

  • Silent carrier, which usually doesn't cause symptoms
  • A beta thalassemia trait, which causes mild anemia
  • Thalassemia major (Cooley’s anemia) which causes severe anemia, stunted growth and an abnormally large spleen (splenomegaly)

What are the signs and symptoms of Pediatric Thalassemia?

Patients with less severe types of the disorder might not develop any symptoms. Patients with the more severe types of thalassemia can have:

  • Slight to extremely pale skin, slight jaundice, a swollen or large abdomen
  • Very prominent face bones
  • Stunted growth
  • Nerve problems or paralysis
  • Exercise intolerance
  • Heart murmur (abnormal sounds in the heart)

What are the causes of Pediatric Thalassemia?

Risk Factors

People who have Greek ancestry or come from the Mediterranean regions are more likely to have beta thalassemia. People who come from Southeast Asia, Africa and the Middle East are more likely to have alpha thalassemia.

Boys and girls are at equal risk for the disease.

How is Pediatric Thalassemia treated?

Blood transfusions and medicines help children with moderate to severe thalassemia, and bone marrow transplantation can help children who have very severe cases. With the exception of alpha thalassemia major, careful management lets patients reach adulthood with a good quality of life.

Children who have severe forms of the disease need ongoing blood transfusions and careful monitoring. Balancing blood transfusions and iron levels in the body is very important.

When a child's spleen gets enlarged because of the disease, surgeons will remove it. Splenectomy (removal of the spleen) is a standard surgical treatment for thalassemia, but children are more likely to get infections when they don't have a spleen.

In general, splenectomy is a safe and effective treatment, and surgeons often use minimally invasive surgical techniques (laparoscopy) that cause less scarring and allow children to heal more quickly.