Diamond-Blackfan Anaemia

What is Diamond-Blackfan Anaemia (DBA)?

DBA is an extremely rare disease that usually develops in infancy and is characterised by low numbers of red blood cells and in many cases, by abnormalities of the face, head, upper limbs and heart. DBA patients are also predisposed to developing a number of different blood cancers, though it is not well understood why this occurs.

Treatments for DBA:

Apart from bone marrow transplants, there is no cure for DBA. About 30% of children who suffer with DBA will respond to oral corticosteroids. However, long-term steroid medication inevitably leads to significant side effects (eg., brittle bones, suppressed adrenal gland hormone function, and increased risk of infection) and steroids may stop working at any time. Patients who don’t respond to steroid medication are faced with a lifetime of blood transfusions, which can lead to problems of iron overload and other medical complications.

Causes of DBA:

Previous research has provided evidence that DBA is caused by mutations in or changes to genes that encode ribosomal proteins (RPs). Ribosomal proteins form part of a large molecular machine called the ribosome that is responsible for making all cell proteins. Each cell contains millions of ribosomes and the synthesis and correct functioning of ribosomes is critical for cells to be able to grow and survive. If a cell detects any change in the amount of these ribosomal proteins, it activates a process called nucleolar stress, which instructs the cell to stop growing or to self-destruct though a mechanism called programmed cell death (apoptosis). This is a problem for sufferers of DBA, because the mutations in ribosomal proteins preferentially affect the ability of patients to make sufficient numbers of red blood cells, which causes their anaemia. The exact reason why DBA preferentially affects the red blood cell precursors, even though the DBA causing mutations are found in every cell and tissue in the body, is not clear. Furthermore, it is not well understood at the molecular level why some carriers of the DBA mutations are unaffected, or conversely why some affected patients spontaneously undergo remission. DBA sufferers also have a significantly increased risk of developing blood cancer and other cancers during their lifetime.

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