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