CASE HISTORY – October 2006

Beta thalassemia


Articles PDF


Thalassemias are inherited disorders of haemoglobin synthesis. Their clinical severity varies widely, ranging from asymptomatic forms to severe entities. Different types
of thalassemia are more endemic to certain geographic regions. Beta thalassemia is much more common in Mediterranean countries.
The pathophysiologic mechanism of thalassemia is related to an unbalanced synthesis of α-chains (alphathalassemia) or β-chains (beta-thalassemia). An unbalanced synthesis of either chain can lead to a failure in the matching of these chains. Haemoglobin deficiency causes erythrocytes to be smaller, leading to the classic hypochromic and microcytic picture of thalassemia. We present a case of a 12-year-old boy who has microcytic hypochromic anaemia since 3 years of age. The patient is in the heterozygous state of beta thalassemia.
The laboratory data of thalassemia minor may resemble those of iron deficiency anaemia. Thalassemia should be considered in any child with hypochromic microcytic anaemia that does not respond to iron supplementation.