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Is thrombophilia screening useful?

QWhat percentage of 'genetically transmittable' problems are picked up by thrombophilia screening?

AThe full screen (see Pulse October 21) will detect about 10 per cent of the population as having a specific thrombophilia condition. Approximately 50 per cent of young patients who have had recurrent episodes of venous thromboembolism will be found to have a specific defect.

There are several other relatively rare thrombophilia defects which for a variety of reasons it is not routine practice to screen for.

There are also probably other genetic defects including possibly genetic polymorphisms of various clotting factors inhibitors and platelets that have yet to be scientifically detected.

Most of the present defined thrombophilia conditions have only been identified and their importance realised in the last 15 years and in the next decade further abnormalities may well be more clearly defined.

Professor Samuel Machin, Department of Haematology, University College London Hospitals

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