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Thalassemia (Pediatric)

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What is thalassemia?

Thalassemia is a blood disorder inherited by children from their parents who both carry genes for thalassemia trait. This condition causes the bone marrow or blood factory to produce fewer healthy red blood cells and less hemoglobin, the iron-rich protein in red blood cells that carries oxygen to all parts of the body. Children with thalassemia have mild to severe anemia. Normal A hemoglobin has four protein chains: two alpha globin and two beta globin. The two major types of thalassemia, alpha or beta, are named after defects in the specific globin.

The condition affects males and females and occurs most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions.

What are the types of thalassemia and their symptoms?

Alpha thalassemia

Four alpha globin genes, two from each parent, are needed to make the normal amount of alpha globin protein chains. This type of thalassemia occurs if two of the four alpha genes are missing. When three of the four alpha genes are absent, Hemoglobin H occurs and patients have a moderate to severe anemia. Symptoms occur in childhood and include

  • Delayed growth and development
  • Tiredness
  • Bone problems such as osteoporosis
  • Enlarged spleen and liver

The most severe form of alpha thalassemia is called alpha thalassemia major or hydrops fetalis. It occurs when all four alpha globin genes are absent. This condition is not compatible with life and infants usually die before or at the time of birth.

Beta thalassemia

Two beta globin genes, one from each parent, are needed to make enough beta globin protein chains. If both beta genes are absent or affected, the result is moderate to severe anemia. The severe form of beta thalassemia is known as thalassemia major, beta-zero thalassemia, or Cooley’s anemia. Children with this condition usually have symptoms within the first two years of life and include:

  • Delayed growth and development
  • Tiredness
  • Bone problems such as osteoporosis
  • Enlarged spleen and liver
  • Risk of heart failure.

How is thalassemia diagnosed?

Diagnosis of this condition entails:

  • Complete blood count with evidence of anemia
  • Microcytic anemia where the red blood cells are smaller than normal
  • Hemoglobin electrophoresis
  • Genetic testing

Parents expecting a baby and known to be thalassemia carriers may consider prenatal testing done by analyzing a sample of amniotic fluid or tissue from the placenta.

What is the treatment for thalassemia?

Treatment of this condition may include:

  • Red blood cell transfusions
  • Iron chelation therapy

Regular blood transfusions can lead to “iron overload,” a condition that damages the heart, liver, and other organs. To prevent this damage, removal of excess iron from the body is required through iron chelation therapy, which is usually effective through a swallowed medication such as deferasirox. Folic acid supplements are used as well.

Stem cell transplant is the only treatment that cures thalassemia. The transplant replaces the abnormal stem cells with normal stem cells from a compatible donor.