Baby Charlie Whitaker faces a tough battle with Diamond Blackfan anaemia. He needs a blood transfusion every three weeks because he has bone marrow failure.

His mum Michelle said his red blood cell count was 25 per cent of a normal reading. If he cannot produce his own, Charlie has to rely on others to donate blood so he can make use of their red cells.

A normal red cell will live for up to 120 days and the body continuously produces new ones. But that is something Charlie's body can't do. *What is Diamond Blackfan anaemia?

Diamond Blackfan anaemia is a rare blood disorder, of unknown causes, characterised by a deficiency of red blood cells at birth. Although no two cases are alike and symptoms vary enormously, it is thought the disease may be inherited. What are the symptoms?

Common symptoms, which are not necessarily obvious in all patients, include slow growth; abnormal weakness and fatigue; paleness of the skin; characteristic facial abnormalities; protruding shoulder blades; webbing or abnormal shortening of the neck due to fused bones in the spine; hand deformities; and congenital heart defects. Other names

The disease is not always known as Diamond Blackfan anaemia. Other synonyms include: congenital pure red cell anaemia, congenital pure red cell aplasia, chronic congenital aregenerative anaemia and Erythrogenesis Imperfecta. The diagnosis

Normal bone marrow, which is the central, spongy tissue part in the middle of our bones, produces the cells of the blood - both red and white. In Diamond Blackfan anaemia, the patient cannot reproduce the red cells and needs constant transfusions. For many, bone marrow transfusion is the only cure. Helplines

*The Diamond Blackfan Anaemia Registry, at Mount Sinai School of Medicine in New York, was established in 1993 and has 250 members. It is a research organisation dedicated to analysing, acquiring and disseminating information on Diamond Blackfan anaemia to affected individuals, their families and medical professionals. You can e-mail on: avlachos@smtplink.mssm.ed *In the UK, the Diamond Blackfan Anaemia Support Group is run by Ted Gordon Smith, 11 Hollyfield Avenue, London, N11 3BY.

National Organization for Rare Diseases (NORD), PO Box 8923, New Fairfield, CT 06812-8923, USA, e-mail: orphan@nord-rdb.com

Story date: Tuesday 13 April

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