Thalassemia: Symptoms and Risk Factors

Thalassemia is an inherited impairment of hemoglobin production. It is a blood disorder characterized by less hemoglobin and fewer red blood cells in the blood than normal. It occurs due to mutations in the DNA of cells that make hemoglobin. These mutations associated with thalassemia are inherited from parents to children.


  • Alpha-thalassemia

In this case, the alpha-globin chains are under-produced. There are two alpha gene loci on chromosome 16 and therefore each individual carries four alpha gene alleles (two from each parent). Hence, alpha thalassemia is further divided into:

  • Beta-Thalassemia

In this case, the beta-globin chains are under-produced. Beta chain genes are located on chromosome 11. The Alpha chain is not affected.



Factors that increase your risk include:


  • Family history-Thalassemia is inherited from parents to children through mutated hemoglobin genes.
  • Geographical factors- Thalassemia is seen most commonly in often in African-Americans and in people of Mediterranean and Southeast Asian ancestry.


  • Weakness, fatigue, and malaise
  • Pallor
  • Deformities of facial bones
  • Slow growth
  • Urine is dark and concentrated
  • Abdominal swelling
  • Massive bone marrow expansion occurs which leads to the development of chipmunk facies in children, thinning and pathological fracture of long bones and vertebrae.
  • Apt test: qualitative test for HbF.
  • Kleihauer- Betke test: quantitative test for HbF.
  • Naked eye single tube red cell osmotic fragility test (NESTROFT): rapid screening tests for mass screening of beta-thalassemia.
  • X-ray of the skull shows characteristic Crew cut/ hair on end appearance.



  • Cardiac failure due to secondary haemochromatosis can occur.
  • Iron overload. Both due to disease and frequent blood transfusions, patients can develop an excess of iron in the body. This makes the body more prone to diseases of the heart, liver and endocrine system.
  • Children with thalassemia and iron overload are at an increased risk of infection Yersinia enterocolitica.
  • Bone deformities. Thalassemia causes expansion in the bone marrow expand, which leads to the widening of bones of the body. This can result in abnormal bone structure, especially of the face and skull (chipmunk facies). Bone marrow expansion also makes bones thin and brittle, increasing the chance of fractures.
  • Enlarged spleen (splenomegaly). Thalassemia is often associated with the destruction of a large number of red blood cells. This causes the spleen to enlarge and work harder than normal. Splenomegaly further worsens anemia, and thus reduce the life of transfused red blood cells as well.
  • Slow growth. Thalassemia may cause a delay in puberty and hamper the growth of a child.


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