What is Thalassaemia?
Thalassaemia is an inherited genetic disorder that affects the production of red blood cells (RBC), which can lead to severe anemia. Thalassaemias are produced by many different genetic abnormalities that result in the absence or deficiency of a globin chain, which disrupts the production of haemoglobin.

 


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  Alpha Thalassaemia

There are 4 alpha-globin genes on chromosome 16; therefore alpha thalassaemia has 4 different manifestations that correlate with the number of alpha-globin genes affected.
 

  Beta Thalassaemia

Individuals with beta thalassaemia have deficiency in one or more of their beta-globin genes. There are only 2 genes on chromosome 11 that code for beta-globin chains, therefore the incidence of beta thalassaemia major is higher than alpha thalassaemia major or haemoglobin H disease because the probability of having a deficiency in 2 genes versus a deficiency in 3 or 4 genes is higher.
 

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