Posted , 3 users are following.
I have only recently been found to have the 2 mutated genes for haemochromatosis, as has my daughter. Should my sister be tested? If she has one mutated gene should my nieces be tested? Their dad passed away many years ago so it would not be possible for both parents to be tested first. I really know very little about this (my GP is not very knowledgeable either on his own admission)
1 like, 4 replies
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jan93765 l76057
Posted
I was in the same position... no one seemed to understand the condition! I finally found a hematologist who provided a great deal of insight. I was told both by my doctor and phlebotomist that yes - if you test positive - everyone in your family should be. I was also told that women often go misdiagnosed until after menopause - so wise to be sure. My first GI physician said that only 1% of people with only one of the gene mutations develop hemochromatosis - though I'm not sure if that is the case or not. There are some GREAT conversations on this patient forum that will help you understand... I have found some good information that has answered many questions.
l76057
Posted
Thanks. The advice I was originally given was to be monitored every 3 years as everything is essentially normal at present but my GP said he'd be happier if it was annually. I told him that my daughter was the same but she was referred to gastroenterologist. She has type1 diabetes but her GP refused to refer her so her diabetic consultant referred her and the Gastro doc said he was so glad she had been referred early so my GP has referred me too. My sister is going to be tested first. If she has no mutated genes then I suppose that will be that but if she has one then her late husband could have the other then the girls will need tested too. At least that's my take on it but I will check when I see the consultant. Yes this is a very informative group.
jan93765 l76057
Posted
l76057 jan93765
Posted
Yes - I've just collected a copy of the letter from the genetic centre so my sister can take a copy to her GP. It states if no raised iron indices then 3 yearly monitoring. If slightly raised annual monitoring and if abnormal then refer to haematology or gastroenterology. My daughter was diagnosed with type 1 diabetes totally out if the blue in her late 30's so does make you wonder. That's why she was so keen to be referred.