The rapid diagnosis of Diamond-Blackfan anaemia

DBA is a rare disorder of the bone marrow. In DBA, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body’s tissues. The resulting shortage of red blood cells (anaemia) usually becomes apparent during the first year of life. Symptoms of anaemia include fatigue, weakness, and an abnormally pale appearance.

Our research has led to the rapid diagnosis of Diamond-Blackfan anaemia (DBA). We have developed and implemented a next generation sequencing (NGS)-based test (simultaneous screening of 80 ribosomal protein genes) complemented by Multiplex Ligation-dependent Probe Amplification (MLPA) for the rapid diagnosis of DBA. This is a national diagnostic reference centre for DBA, which provides genetic diagnosis for 70% of patients, as opposed to 50% in other similar centres in Europe and the US.

This activity has had a profound impact at several levels, including accurate genetic diagnosis and the selection of unaffected siblings as stem cell transplant donors for patients with DBA. There will be an increased referral rate of patients with DBA to the DBA specialist clinics, along with the participation of patients with accurate genetic diagnosis in clinical trials. Furthermore, it is an opportunity for closer interaction between clinicians, diagnostic and research lab scientists with patients with DBA and their families in annually organized retreats.