Thalassemia, is a form of anemia quite common in the Mediterranian countries, is caused by errors in the gene splicing process.

   

Normal red blood cells contain correctly spliced beta-globin, an important component in hemoglobin that takes up oxygen in the lungs.

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  Arrows mark 2 points of sites where point mutations causing thalassemia occur in the beta-globin gene.


 

The red blood cells in thalassemia patients are distorted and sometimes immature, containing a nucleus. This is due to a point mutation in the beta-globin gene, which causes an error in splice site selection. A faulty beta-globin protein is made, leading to severe anemia.
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