Question
A 30-year-old man has fatigue from chronic hypochromic microcytic anemia. Hemoglobin electrophoresis reveals decreased Hgb A1 with increased Hgb A2 and F, due to imbalance of alpha and β globin chain synthesis. This results in RBC inclusions that cause membrane damage and accelerate apoptosis. Which of the following mutations is most likely to be present in the β globin gene of this man?
A. |
Trinucleotide repeat |
B. | New stop codon |
C. |
Single base insertion, with frameshift |
D. |
Splice site |
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