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Question

My wife had her spleen removed at the age of ten, because she had spherocytosis. When should our two sons be tested for this disease?

Answer

Spherocytosis is the most common hereditary blood disease that causes haemolysis (breakdown) of red blood cells. This results in jaundice.

It is very common in northern Europe.

It is inherited in an autosomal variable manner, meaning that 25% to 50% of children born to a parent with the gene, will be affected.

Sperocytosis presents with anaemia, an enlarged spleen, and jaundice. It can appear from infancy to old age.

The spleen is not usually removed in young children unless absolutely necessary, because of the increased risk of infection.

It is difficult to advise on when your children should be tested.

Your own doctor needs to know of your wife's condition, and be aware of the presenting symptoms. The children should be regularly examined for an enlarged spleen, or anaemia, and a full blood count with a reticulocyte count should be done if any of the above mentioned signs are seen.

If no signs of the disease are present, a yearly full blood count from infancy would be a good screening test for the disease.

Please discuss this in detail with your own doctor.

MORE BLOOD DISEASE Q&A'S
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