HEREDITARY HEMOCHROMATOSIS DNA MUT
I have one set of faulty H63D and C282Y has anyone had experience with this any suggestions I'm so confused because there's so many things that it could be
Just if anyone else had this
- Thanks so much for clarifying your statement. I've not seen hemochromatosis gene mutations discussed in articles on our spondyloarthritis site. I await to see if another member may chime in with their experience. Thanks for sharing. All the best. Rebecca (team member)
Hello
- this is a new one for me. I've not studied my genes or mutations, therefore using studies to possibly bring light to these gene mutations. I stumbled across this study while researching your question. It may (or may not) have useful information. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2111641/
Another study I found stated it could cause a few different situations - "Homozygous H63D variant can occasionally be the cause of hemochromatosis. It is also associated with the occurrence of other conditions like hypotransferrinemia,[4][5] liver dysfunction,[6][7] bone and joint issues, diabetes mellitus, heart disease, hormone imbalances, porphyria cutanea tarda (PCT), infertility, stroke,[8] neurodegenerative and brain damages,[9] some cancers, venous and peripheral artery disease.[10][11]" https://en.wikipedia.org/wiki/HFE_H63D_gene_mutation
Lastly, this study states, "Hereditary haemochromatosis is a common autosomal recessive disorder of iron metabolism. Most patients are homozygous for a C282Y mutation in the HFE gene. This mutation is frequent in northern Europe, where one in five to ten people are carriers. People who are heterozygous for the C282Y mutation have slightly but significantly higher values for serum iron and transferrin saturation and are less likely to have anaemia because of iron deficiency.1,2" https://www.ncbi.nlm.nih.gov/pmc/articles/PMC165699/
I am not sure what exactly you are looking for concerning spondyloarthritis and these gene mutations. Is it a "connection" you seek or ?? I understand that this type of information may be alarming, but do speak with a professional about its significance concerning inflammatory arthritis. You may find differing answers, but you could get a general idea of how it affects those suffering from this disease.
Wishing you nothing but the best as you go on this journey toward wellness. Rebecca (Team member)
