Sickle Cell Anaemia and Thalassaemia
These are the most common disorders caused by a single gene defect and cause potentially fatal
anaemia as the red blood cells cannot deliver enough oxygen to the different parts of the body.
These diseases are relatively uncommon in the UK but are a major health problem in parts of the
world with large populations of people with Mediterranean, African or Asian descent.
Very harmful faulty genes, like those associated with these diseases, are quite often reduced in a population because sufferers may die prematurely and not produce children and so pass on the faulty gene.
Individuals who suffer from Sickle cell anaemia have additional protection against malaria thus helping them to survive in areas where malaria is common, reach maturity and have children, so passing on the faulty gene.
More information on sickle cell diseases can be found at www.sicklecellsociety.org.uk
The symptoms of sickle cell anaemia vary from very mild to very severe and may entail long
periods of very intense pain, called crisis, when sickled blood cells block oxygen flow to the tissues.
There is no cure for sickle cell anaemia but in recent years drug therapies have been developed
that reduce the frequency of painful crisis.
The ultimate cure for sickle cell anaemia may be gene therapy though this research is at an early stage.
Research into the disease and the development of treatments has been hampered by the lack of an animal
model that could be used to test drugs and gene therapy. Scientists have now managed to genetically
engineer a mouse that displays some of the symptoms of sickle cell disease in a similar way to humans.
This is a very important advance in the search for treatments and hopefully a cure for this lethal disease.
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