HEMOGLOBINOPATHIES. BIOCHEMISTRY DR AMINA TARIQ. A large number of mutations have been described in the globin genes. These mutations can be divided into two distinct types:
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DR AMINA TARIQ
1. Because bones are particularly affected by the reduced blood flow, frequent and severe bone pain results. This is the typical symptom during a sickle cell crisis.
2.Point mutations in the promoter
3. Mutations in the coding region leading to defective initiation, insertions and deletions resulting in Frameshifts and Nonsense mutations
4. Splicing abnormalities.