Tag Archives: Pure red cell aplasia
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
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
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
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
The result of your aspirate – what is the diagnosis? What is your management plan?
Here’s the trephine to help…