My daughter has one gene mutation for HH therefore should only be a carrier (that's what the doctors told me) however she is presenting all the symptoms and even though she has been receiving the monthly venesections her last blood tests showed her levels had raised from 114 to 184 in the space of 4 weeks when they have been coming down slowly but surely. We are waiting for more dna test results back as we have been referred to two professors in Cambridge but in the meantime has anybody been in this situation before?
I've never actually heard of anyone with a single gene receiving that treatment go be honest,and 184 is the lowest I've heard of anyone receiving the treatment too. Maybe each Dr deals with it differently
Hello - it is confusing. Which HH gene is she carrying? Yes carriers can take up iron quickly. And there may be other genes in play. When you see the reults from the dna tests you may find out more.
All her symptoms pointed to HH and her levels started off in the 300s so it was clear to them she had some sort of iron overload disease and that's why they started her on the venesections. Although I know not very high to begin with she was vomiting, had raised liver enzymes, swollen joints and so on so whilst waiting for the exact dna test they started her treatment and it has reduced her levels and reduced her symptoms up until now. They were equally as confused when her test results came back saying she only had one gene mutation so couldn't understand why she was presenting these symptoms when she is only a carrier by rights. It's all very confusing, I hope her other results shed some light.
Not sure without looking at her notes sorry, they do seem to think there is a mutation on a different gene now her other results only show one mutation of the HH gene it's just a long and complex process isn't it.
Yes each doctor does treat it differently. Some are aware of the disease. Many are not. Do your own research. It helps.
Thanks, I do feel we are receiving the best help and treatment we can. We have been referred to a number of doctors and professors who between them all is getting closer to finding out the main issue with her. It's been a lengthy process and educated myself on HH only to be told there is another gene mutation involved. Was just wondering if someone else had been in this situation while I'm waiting for the results.
I am from the UK but yes she has been tested for all the genes and was told she has one gene mutation for the Juvenile HH. She has had further gene testing done to check for other mutations that isn't the HH were just waiting on the results.
I don't think HH is causing her issues,and I do find it odd as I mentioned that with such a low (but within normal limits) level she is receiving any treatment at all. It sounds like she may have something else causing her symptoms and your drs have kept too early into HH treatment which may not have been needed
I am so sorry to hear your daughter is going through this - it's not easy as an adult let alone as a child. Last year my ferritin levels were over 800 and after a numerous tests including the DNA test which confirmed I only had one gene which meant I was only a carrier. I followed a few simple diet steps
no cooking on or in cast iron cookware
eating a boiled egg at least once a day - a simple boiled egg can reduce iron absorption by 28%
cut out any vitamin supplements
cut out fruit juice
cut out anything that had extremely high iron content mussels, black pudding, marmite, cornflakes, pate, dark chocolate or anything fortified in iron
increased my calcium content
Hope this helps
eat only meat or fish once a day
2 blood donations
I am glad to say my levels have come down to 297 - it has been a long haul but I certainly can feel the difference
Sorry to hear this about your daughter. She must be feeling terrible. Have they tested for Gilbert's Syndrome too?
I hope they find a treatable answer very soon.
There is another issue besides her having the one gene mutation for Juvenile HH but their confident that venesections were the correct treatment for her. Her levels were over 300 to begin with and not very high I know in comparison to others getting symptoms but she had raised liver enzymes, swollen joints, vomiting, headaches and so on. The vomiting has been much better since her venesections . They want to continue with these on a monthly basis until she reaches about 75 then they can spread them out. Whatever the outcome of her genetics test she has too much iron in her body therefore needs to remove it. Small amounts of iron was found in her liver and heart also so I am happy with the treatment she's getting
Thank you Sarah,
No it's not nice at all bless her. You say you only have one gene mutation. Apart from the raised ferretin levels, we're you getting any other symptoms?
She has a healthy diet anyway but we've cut out and added in the necessary items. I'll try the boiled egg though, thanks for the advice.
Her venesections were working great until her last test, I know it could be a one off but it's still worrying.
I know there is another gene mutation involved which hopefully will explain her symptoms it's just a waiting game.
Hi sheryl,
Thank you. It's not nice at all bless her. No not that I'm aware of. Does this sound symptomatic of Gilbert's syndrome? I can't say I've ever heard of it. (Typing it into Google as we speak)
V good dietary advice from Sarah - I see our discussion about using private labs has been deleted by moderator. That's sad because the need for information for this and other genetic defects is great and knowing where to go for more information can be time saving, even life saving and reduces worry. I wish you and your daughter good luck. Life long monitoring - and treatment if needed - is key.
Try looking at the Gilbert's Syndrome forum here. You will hear of a number of symptoms that they have although all their drs tell them there are no symptoms for GS!
Diet, as in the elimination of foods that make them worse, seems to be the only key for them.
But Juv HH is very serious, and I don't doubt that even one Juv HH gene can cause a lot of problems.
Let us know how the consultations and results go.
So her levels are coming back down slowly but surely...Yey! They said because she had a flu and chest infection it made them spike.
Had an email from Cambridge hospital too that her results from the Gemini iron chip will be here by the end of April so shall keep you posted.
Look for The Hemochromatosis Cookbook in your library or ask them to get a copy in for you for info on what foods to eat and why.
Thanks Sheryl,
I'm OK with she should and shouldn't be eating. I've researched and read up on this. I was just more confused about what this other gene mutation could be, but not much longer to wait.
I've never heard of someone that young being diagnosed with HH. Every blood specialist I've seen (and I've seen 3) has told me that my future children won't have to worry about even being tested until they're 18.
Have you made sure that she's been tested for anything other than iron overload?
Maybe this is what she has, I don't know as I'm not a doctor and I don't have all of the information, but I would just want a second opinion.