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Diamond Blackfan syndrome
How is it diagnosed?
The diagnosis is easy if there is already an affected child within the family, or the baby has a physical feature of DBA. Otherwise, it is a matter of confirming that the problem lies in a red blood cell production failure, and then to exclude parvovirus infection. Preliminary blood tests will show if too few red blood cells are being produced. The next step is for a small sample of bone marrow to be taken, to confirm that the anaemia is caused by production failure. Tests on the marrow will also include checking for evidence of infection with parvovirus. There is an additional test which measures the level of an enzyme, adenosine deaminase (eADA), in the red blood cells. The eADA level is usually raised in DBA, and can provide further evidence that the anaemia is due to DBA. The red blood cells in DBA are often larger than average (they are said to have a 'high MCV'), which can give further support to a probable diagnosis of DBA.
What are the causes?
| How is it treated? 
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