The Synaptic Report
Medicine & Health17 November 2025

Epigenetic Signature Offers Diagnostic Certainty for a Rare Anaemia

Source PublicationAmerican Journal of Hematology

Primary AuthorsQuarello, Karimi, Trajkova et al.

Visualisation for: Epigenetic Signature Offers Diagnostic Certainty for a Rare Anaemia
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Diagnosing Diamond-Blackfan Anaemia (DBAS), a rare inherited disorder affecting bone marrow, has long been a challenge due to its variable symptoms. Now, researchers have identified a powerful new tool: a unique DNA 'episignature'.

This signature is not a gene mutation itself, but a distinct pattern of DNA methylation – chemical tags that control gene behaviour without altering the genetic code. In a study of 80 patients, this episignature acted as a highly accurate biomarker, clearly distinguishing DBAS from other similar conditions like Fanconi anaemia.

The test proved its mettle by correctly identifying the DBAS pattern in several previously uncharacterised cases, with subsequent genetic sequencing validating the results. The signature appears to be a stable epigenetic mark established early in development, making it a reliable diagnostic indicator. This breakthrough offers a robust method for confirming DBAS and helping to resolve cases with uncertain genetic variants.

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geneticsepigeneticsdiagnosticsDiamond-Blackfan Anaemia