Inheritance combinations for HH??? Advice please.

Allergies, blood and immune system
1

Hello.  I've been looking at the inheritance combinations on the Canadian HH website and just want to check the details & see if I can make sense of our family and possible routes of inheritance.

My brother carries 2xC282Y genes,  I carry 1xH63D and 1xC282Y gene so this means that our sister (who has not been tested) must either be the same combination as either of us or be a carrier of one of the two genes?  Our mother (doctors refuse to test her) and father (who has passed away) must both have carried the C282Y gene and one or both of them must also have carried the H63D gene in order that I was able to inherit it?  Am I right in thinking that my son must have inherited one of the genes from me and therefore be a carrier?  Could he have the same combination as me even if my husband isn't a carrier?  

Sorry if I seem a bit stupid!  Just trying to make sense of it all.

Many thanks to everyone who takes time to answer questions and reassure us all on this site :-)

2

Hi I have 2×C282Y. My mum says she's too old to get tested. My dad has sadly passed away.

2 of my sisters are ok and 1 is a carrier.

Myself and my sister who is a carrier also have Gilbert Syndrome?

2 of my son's have had their ferritin checked and are ok. But doctors aren't even sure what blood test they needed to have. My eldest hasn't been tested yet.

3

Hi, I read your message with great interest.    I have been trying to find out more about the origins of this hereditary disease.    I was simply told by a Consultant that in my case both my mother and father had a mutant gene and whilst I had the HH my sister, after testing, has not.     It could be that she is a Carrier but she has no children.    My daughter was tested and she is okay and the Consultant did say that more males than females are suseptible to this disease.   I attended a meeting of the Haemochromatosis Society and was surprised at the number of people who have HH, some of whom were female, but not many.    It is imperative to find out early and so avoid further complications.    In my case, it was only diagnosed this year and I am 68yrs old and HH has lay dormant for many years, the iron overload storing itself in my liver, hence the need to have a liver ablation to destroy a tumour.   After diagnosis, the challenge seems to be to reduce the ferritin level to somewhere near normal level.   In my case, the ferritin level fluctuates and no one can explain why this happens.  Diet is important and I am very careful with my diet but It is quite frustrating when you see the ferritin level going down and then, for no apparent reason, it rises again.    I have accepted the fact that the iron overload will always be a problem because of the mutant genes passed down by parentage and as the only treatment is phlebotomy to assist the reduction of iron in the blood, and having spoken to other sufferers who have been donating blood for years and are still doing so, that this disease is a mystery, it certainly is to me.    I was advised to have all my family members tested to determine which of those are at risk.

4

I often think that my poor dad had hemochromatosis as he was always sleeping and problems with his knees, Always in pain with them.He always used to forget things. But sadly he was later diagnosed with Alzheimer's. His dad and brother died with heart problems.

 I was diagnosed after One year I kept being so ill and ended up having Pneumonia and would not clear up, but for years I have suffered with a lot of the symptoms especially the tiredness and going light headed.

5

Hi, thanks for your reply.  The most useful information I've found is from fellow HH sufferers and then various other websites, namely www.irondisorders.org and the Canadian and Australian HH sites.  The Canadian one has a really helpful chart showing possible genetic inheritance patterns.  I think it was on the Canadian site that it was written that it used to be thought, before DNA testing, that men were more susceptible than women.  It has since been discovered that women's symptoms are later setting in because of natural menstrual blood loss.  Women's symptoms are then often missed because they can be so similar to menopausal symptoms.

A word of caution re your daughter - I was "tested" many years ago, as soon as my brother was diagnosed.  I didn't know much about HH, then, so just took my doctor's word for it that my tests showed I did not have HH.  My symptoms have recently worsened radically and my brother said I should be checked again BUT to make sure that I had the DNA test as the iron panel tests (if these are, indeed, done - my first doctor had only checked my ferritin and haemaglobin, it turns out) won't always show if you have the potential to develop HH.  Even when my new doctor got the results, he didn't read them properly and told me I was only a carrier and that any symptoms I had must be from a stressful life i.e. hypocondriac alert!  I was then called back into the surgery by a different doctor who said I needed to be referred to haematology as I had two genes and was at risk of loading iron.  As Sheryl and Marie on this site always suggest - ask for a printout of your results and find out as much as you can.

6

Hi Karen,

Thanks for your replies.  Like you, my Dad's family had a history of early death from heart problems - his uncles, dad and grandfather all died in their late forties and fifties.  My dad started having black-outs at 50 and that was when his problems began.  His younger sister died of Cancer -early 40s; his other sister is still living but has Alzheimer's.  

It's taken me a long time to get diagnosed but now that I'm having venesections, I feel more positive and definitely have less symptoms.  I just wish that more could be done to make this condition higher profile.  Now that I'm aware of HH, every time I flick through a magazine I seem to see another article with a title like "Sick of feeling sick and tired?"  and the author proceeds to tell everyone how they need an iron supplement. I must have seen at least four articles in the last few months and there is never a mention of HH.  When I have time, I think I may get writing to some high-profile magazines and see if they're interested in publicising HH.

We're the lucky ones, really, as we know what we're dealing with and have the opportunity to get the iron-laden blood out of our bodies before it causes any more damage.

:-)

7

Karen, I think you'd be interested in the Canadian site for HH and the chart that they show with possible combinations of genes for family members.  

8

Hello Karen, It sounds like your Dad may well have had undiagnosed HH   He certainly had the symptoms, painful joints, tiredness and loss of memory.    Not enough is known about the origins of this disease and it seems that it is only when a blood test is carried out, in my case, it was when I registered with a new Doctor, having moved house and, it showed very high ferritin levels, diabetes mellitus and a tumour on the liver.    Quite a shock and to be told there is no cure that the only treatment is frequent blood donation.      Otherwise, I just put the painful joints down to my working life, as a Carpenter and the tiredness and memory loss to getting older.     When you speak to other sufferers they know the symptoms, they know the only treatment is phlebotomy but not much more.    But, it is surprising just how many people suffer from HH.    Are your ferritin levels high?        regards Glyn

    

9

Hi, thanks for all the information on the available websites.  I shall indeed check them out and bear in mind the necessitty to remind my daughter to be checked on a regular basis as I do believe that HH can lie dormant for many years without knowing that an iron overload is taking place.   kind regards Glyn

 

10

You are right with your guesses regarding your parents.  But, your son will definitely inherit only one of your genes, but not both.  He can only get another gene from his father, if his father carries one or both.

 

11

Thank you.  Am I right in thinking that my other sibling, in light of the mutations that our brother and I have inherited, must be a carrier, if not the same combination as myself or our brother?

12

Glyn, a first degree relative of someone proven to have HH is entitled to a free genetic test.  Don't let them just do some iron test.  There is so much misinformation out there amongst the drs, we have to educate ourselves, then educate the drs to do the appropriate service.

Your HH assoc may have a letter on their website that can be taken to your relative's dr explaining the necessity of the gene test.  I know there is one on the Australian website.

It is accepted that the Celts and the Nordic people carried the haemochromatosis genes and passed them on.  The Irish believe that it came from them, but that is not true, the Celts wandered through Europe passing on their dna long before they crossed the ditch into the UK.

It did not develop to save people from famine as some have written.  Goodness, that would mean all we had to do is stick our fingers into the earth and lick them and famine would no longer exist!!!!

Iron is everywhere, even in the Sahara desert sands.  Plants would not grow without iron in the earth as it is one of the necessary minerals.

The Celts are said to have brought in the Iron Age.  They used iron for food storage, food utensils, armour, and obviously mined it or stole it for hundreds of years.  They were coated in it, inside and out.  The Nordic people did the same.  Perhaps the long term absorption of excess iron changed their dna.  That is why they survived their wounds and loss of blood more than the other tribes and became the dominant tribe.

However, people did not live very long then, so combined with their many blood losses, the symptoms that we know were probably not evident.

The mystery is, where did the Celts originate from before roaming Europe?  I did see some research some years ago that suggested they came from the north anyway.  Perhaps a renegade red haired lot, too prepared to be ferocious, just could not get along with their Nordic peers and were 'asked to leave'.

Anyway, I am interested on your take on this if you find anything out.  I am also interested to know if perhaps, the Celts carried one type of gene, and the Nordic gene another.

As the Vikings, then their fellow Nordic people conquered and settled the UK, and mixed their dna, we now have people with a combination of those dna. 

 

13

hcdaisy, that would be a great thing to do - write your story to a magazine. Creating awareness is so important.

I sent an email to the US dr shows asking for them to do a show on it, but only got the standard reply of having received my email, etc. etc.

Everytime they do a show on fatigue they never mention HH.  It is just never mentioned - like some big secret!

 

14

Yes, there is no way he could avoid being a carrier.  The chances are that he could have the same genes as yourself or your brother, even more.  Perhaps, he is one of the lucky ones with no symptoms (I always say YET), or perhaps he is just not in touch with his body too well, and finds other excuses for it, like getting old, stress, working too hard, etc. etc.

 

15

Yes, I'd honestly never heard of it until my brother was diagnosed.  I even took iron supplements for years!!  I think women's magazines are the way to go in the first instance - especially those aimed at women from 30+ as they could point out the similarities between peri/menopause and HH.  Natual health magazines may also be interested.

16

Our other sibling does have quite distinct symptoms but, like our mother, has low ferritin levels so their doctor (they have the same one and are in a different location to me) has refused to test their genes.