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Home Disease Index Aplastic Anaemia

 

Overview

Causes
Symptoms
Risk Factor

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What is aplastic anaemia?

 


'Aplasia' means the lack of development of a tissue, cell or other body part. Aplastic anaemia is the condition in which the bone marrow fails to produce blood cells. Normally, the bone marrow produces:

red blood cells (which carry oxygen in the blood)
various types of white blood cell (which are part of the immune system)
platelets (which are involved in blood clotting).

Each of these different types of blood cell originates from simpler cells, known as precursors or stem cells, which develop into the more specialised forms.

There are numerous reasons for the bone marrow to fail to produce blood cells in adequate numbers, but in aplastic anaemia there is a marked deficiency of all the precursor cells that should mature into adult blood cells.




How do I get aplastic anaemia?

 


In 65 per cent of people the cause of aplastic anaemia is unknown (the technical term is 'idiopathic'). Rarely, the disease is present at birth (congenital). The commonest congenital form is Fanconi's syndrome, but fewer than 1000 cases have ever been described. As well as aplastic anaemia, patients with Fanconi's syndrome have short stature, abnormal skin pigmentation, abnormalities of the bones of their arms and thumbs, kidney problems and an elfin-like appearance. A characteristic abnormality of the chromosomes (random breaks) is seen.



What are the symptoms?

 


The person complains of increasing tiredness, weakness and shortness of breath. Bleeding, bruising and blood spots may be noticed. Sore throats and other infections are noticeable. A high temperature with shivering attacks is an important symptom that demands immediate medical attention.



Living with aplastic anaemia

 


Patients will need to steel themselves, at least initially, to a life dependent on the local haematology service. While it is possible to continue working or schooling, there are certain restrictions. Bodily contact sports must be avoided and a close watch must be kept for infection. Transfusions will be a regular interruption. Some infections proceed very rapidly and need instant remedies, hence the need for close contact with the haematology service.

All of the therapies carry side effects. ATG may cause a fever and often leads to 'serum sickness'. During this phase there may be rashes and joint pains. Ciclosporin can also cause problems with unusual hair growth and gum swelling. In higher doses it can cause high blood pressure and kidney failure. For these reason blood levels have to be regularly monitored. The major complication of bone marrow transplantation is graft-versus-host disease. This shows itself as a rash, diarrhoea or liver abnormalities.


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