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Selama transkripsi, seluruh gen HBB (termasuk intron dan ekson) ditranskripsi menjadi pre-mRNA. Kemudian, dalam proses *splicing*, intron dikeluarkan dari pre-mRNA, dan ekson disambung bersama untuk membentuk mRNA dewasa. mRNA ini kemudian diterjemahkan oleh ribosom untuk menghasilkan protein globin beta. Mutasi pada ekson dapat menyebabkan penyakit seperti anemia sel sabit, di mana struktur protein hemoglobin terganggu, mempengaruhi kemampuannya untuk mengangkut oksigen secara efisien.
