The thalassemia syndromes are inherited disorders of α- or β-globin  biosynthesis. When the words “trait,” “minor,” “intermedia,” or “major” are used, these words describe how severe the thalassemia is. A person who has ” thalassemia trait” may not have any symptoms at all or may have only mild anemia, while a person with thalassemia major may have severe symptoms and may need regular blood transfusions.


Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:

  • One mutated gene, you’ll have no signs or symptoms of thalassemia. But you are a carrier of the disease and can pass it on to your children.
  • Two mutated genes, your thalassemia signs and symptoms will be mild. This condition might be called alpha-thalassemia trait.
  • Three mutated genes,your signs and symptoms will be moderate to severe.

Inheriting four mutated genes is rare and usually results in stillbirth. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition can be treated with transfusions and a stem cell transplant.


The four classic α thalassemias, most common in Asians, are

1.α thalassemia-2 trait, in which one of the four α-globin loci is deleted

2.α thalassemia-1 trait, with two deleted loci

3.HbH disease, with three loci deleted

4.Hydrops fetalis with Hb Barts, with all four loci deleted


Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:

  • One mutated gene, you’ll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.
  • Two mutated genes,your signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley anemia.

Babies born with two defective beta hemoglobin genes usually are healthy at birth but develop signs and symptoms within the first two years of life. A milder form, called thalassemia intermedia, also can result from two mutated genes.


Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Family history of thalassemia. Thalassemia is passed from parents to children through mutated hemoglobin genes.

Certain ancestry. Thalassemia occurs most often in African Americans and in people of Mediterranean and Southeast Asian descent.

Soil in farming activities due use of pesticides, artificial fertilizer

Genetic susceptibility



  1. Anemia
  2. Children develop characteristic “chipmunk” facies due to maxillary marrow hyperplasia and frontal bossing
  3. Profound growth retardation
  4. Hemolytic anemia causes hepatosplenomegaly
  5. Leg ulcers
  6. Gallstones
  7. High-output congestive heart failure
  8. Fatigue
  9. Weakness
  10. Pale or yellowish skin
  11. Facial bone deformities
  12. Slow growth
  13. Abdominal swelling
  14. Dark urine









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