Tag Archives: family screening

Case 99 – Summary

Posted on 14/09/2018 by

Thank you for your contribution in our #TeamHaem case this week. This week we have been looking at Diamond Blackfan anaemia (DBA). This is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. It is one of the Inherited … Continue reading →

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Case 99 – update 5

Posted on 13/09/2018 by

Genetic testing on both parents and her brother are carried out and are all negative. Hence this is a de novo mutation of RPL5 in our little girl. You also carry out HLA typing on her and her brother, who … Continue reading →

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Case 99 – update 4

Posted on 12/09/2018 by

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 … Continue reading →

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