Using data from a nationwide registry, researchers characterized the clinical profiles of patients with Diamond-Blackfan anemia (DBA). Their findings were published in the British Journal of Haematology.

Researchers evaluated a national registry in Italy, which stores data from all patients treated for hematologic conditions under the Italian Association of Pediatric Hematology and Oncology, to “report the findings from the Italian DBA Registry, the clinical profiles of the patients, and to discuss the Registry’s future challenges in fighting this disease.”

In June 2019, the registry contained data regarding 283 patients with DBA in 215 families; the incidence ratio in the preceding 15 years was 14 patients per million births. A similar number of male and female patients were diagnosed, and 80% of patients were diagnosed within the first year of life, at a median of 3 months (range, 0-58 years). Of the 244 patients with available malformation data, 123 (50.5%) had a noted malformation, and the overall survival at 30 years of age was 77%.

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Almost all patients (271; 96%) were characterized at a molecular level, and a causative mutation was found in 68% of patients. Analysis showed, furthermore, that erythrocyte adenosine deaminase (eADA) activity levels and ribosomal RNA assays were important for diagnosis and determining remission status.

The researchers noted that, in comparison with small ribosomal subunit protein genes, large ribosomal subunit protein genes were linked to a greater likelihood of malformation and higher eADA levels.

“We confirm the importance of the existence of an active national registry for this challenging disease with the obvious wish that all DBA registries would merge into a single worldwide registry,” the researchers wrote. “This is a mandatory step towards an evidence-based medicine approach.”


1.     Quarello P, Garelli E, Carando A, et al. A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? [published online February 21, 2020]. Br J Haematol. doi: 10.1111/bjh.16508