Based on a diagnosis of Diamond Blackfan anaemia, a decision is made to start a regular transfusion programme until she is over 1 year of age to minimise the impact of steroids on her growth. It will also allow her to have her cleft palate repair in the mean time, and to complete her immunisation.
USS abdomen and ECHO do not show any abnormalities.
Meanwhile, genetic studies have demonstrated a mutation in RPL5.
1. What is the implication of the mutation? What inheritance pattern might you expect?
2. How do you manage the rest of the family?
3. What difference does it make if NO mutation has been identified? Would that change your diagnosis or management?
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