Tag Archives: Pure red cell aplasia

Case 99 – Summary

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

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

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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Case 3 – summary

Issues raised during this case: * Comments written on a new probable CLL film: most people tell the GP that the patient probably has CLL and suggest GPs should discuss patients with nodes or splenomegaly. Most people suggest repeating the … Continue reading

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Case 3 – update 4

The result of your aspirate – what is the diagnosis? What is your management plan?

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Case 3 – update 3

Here’s the trephine to help…

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Case 3 – update 2

In the clinic youe establish that the sweats are not likely to be due to lymphoma (brief, non-drenching, day and night and not a major issue for the patient). You discuss the pros and cons of prognostic testing and in … Continue reading

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