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Diamond-Blackfan Anaemia(DBA) is a rare inherited bone marrow failure disorder characterised primarily by inadequate production of red blood cells. It usually develops during infancy or early childhood and commonly causes severe anaemia, tiredness, pale skin, poor feeding, and reduced growth. In many affected children, the condition results from changes in genes involved in ribosome production and function, making DBA a type of ribosomopathy.

Some individuals with DBA may also have physical differences, including abnormalities of the thumb or upper limbs, distinctive facial features, short stature, or heart and kidney abnormalities. However, the severity and combination of symptoms can vary considerably between individuals.

Diagnosis involves blood tests showing anaemia with a low reticulocyte count, along with examination of the bone marrow, which typically demonstrates reduced redcell precursors. Genetic testing can help identify disease-associated mutations and support diagnosis.

Treatment depends on age, severity, and individual response. Corticosteroids may improve red blood cell production in many patients, while regular blood transfusions can be required when steroid therapy is ineffective or unsuitable. Long-term transfusions may lead to iron overload, requiring careful monitoring and iron-chelation therapy. Haematopoietic stem cell transplantation may be considered for selected patients.

Ongoing specialist follow-up is important because DBA can involve growth, endocrine, and other organ complications and carries an increased risk of certain cancers.