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Diamond Blackfan syndrome
What are the causes?
The anaemia is caused by a failure of the bone marrow to produce red blood cells ('red cell aplasia'). The exact cause is not clear, but the problem seems to be a fault in one of the early steps of red blood cell production. In up to twenty-five per cent of affected children there is a fault within a gene called RPS19 (short for 'small ribosomal protein 19'). There is a lot of research looking for the genes that are damaged in the other seventy-five per cent, with some promising leads, but no definite answers as yet.
Infection with a particular virus (parvovirus) can cause a switch off of red blood cell production. Nearly always this lasts for such a short time that it goes unnoticed, but infection during pregnancy can sometimes cause severe anaemia in the baby. There is also a condition known as 'transient erythroblastopenia of childhood' in which red cell production is temporarily switched off, usually following a viral infection. This is rare in babies, being most common in toddlers and pre-school children. This gets better on its own within a few months, and can sometimes be difficult to tell apart from DBA, except by waiting to see if the anaemia improves on its own.
What are the symptoms?
| How is it diagnosed? 
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