The doctor joined the mother for another appointment. This time, it was concluded that Miss X had thalassemia. It is a genetic blood disorder where the red blood cells have an abnormal shape. Miss X's blood cells cannot properly carry oxygen to the body tissues because the abnormal proteins cannot bind oxygen. As a result, Miss X will be physically limited.
Thalassemia has no easy and obvious cure. However, the beta-thalassemia patients are treated with transfusions. Miss X's severe form of thalassemia will cause her to have a severe quality of life and treatment with transfusion would have minimal results. Most likely, Miss X will die in her early teen years.
As for more complex cures, Miss X could try a bone marrow transplant. Also, she may be an excellent candidate for possible experimental gene therapy. If this course is folloed, the doctor would have to test Miss X's RNA. If the tests indicate thats she has an abnormal beta-globin, then Miss X may qualify for the experimental study. This specific change meay be determined by testing Miss X's RNA. Altered mRNA can be detectable using a test called the Northern Blot. The altered mRNA would be larger than the normal one. This larger size is due to incorrect splicing of the beta-globin pre-mRNA. Instead of having a beta-globin mRNA with exons spliced directly together, part of an intron would be retained between the two coding sequences; part of the beta-globin non-coding information would have become part of the code for her beta-globin protein. As a result, the beta-globin protein would not be translated correctly and would cause her symptoms. In this case, a second test would need to be run to verify that Miss X has the specific intron mutations that the gene therapy is designed to correct. By loking at her beta-globin pre-mRNA sequence, one can check this out, making Miss X an excellent candidate for pre-mRNA gene therapy.
(Written on April 8th, 2008)
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