when to get tested

[jodorey]

If diagnosed as being a gene carrier of haemachromatosis - when should my children be tested my GP very vague and not really sure - they are 12 and 13 yrs

[AyrshireK]

The British Liver Trust has a very informative page on haemochromatosis in which it states:-

"If you have a family history of haemochromatosis, you should see a medical professional. Relatives may be at risk and need to be encouraged to be screened by genetic testing to find out whether they carry the HFE gene mutation (though children do not need to be tested until they reach adulthood and can decide for themselves). It is very important that brothers and sisters of someone diagnosed are screened because they are more likely to carry both abnormal genes.

Genetic counselling can help you to better understand the likely occurrence of haemochromatosis in your family or explain the implications of any diagnosis. You may wish to talk to a counsellor to find out more about an inherited disorder in your family or you can be referred for counselling by a GP or hospital consultant following diagnosis. "

The full page is at:- britishlivertrust.org.uk/li...

Hope you get some appropriate guidance there.

[Hidden]

Good advice from Kate. GP hesitancy probably due to the fact that it takes some time for iron to accumulate and there is a cost implication for screening. When I was diagnosed aged 50+, my children were also advised and GP told my son then in 20s to wait 10 years - probably not a good idea. The issue for GP is that ferretin levels are likely to be high (not enough time to accumulate) and the genetic test costs £50+