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Does anyone know anything about haemochromatosis?

(35 Posts)
OstrichRunning Fri 02-Aug-19 11:34:32

Just got bloods back from gp. My transferrin saturation is 79.1, which I understand is suggestive of haemochromatosis - iron overload. Sort of have my head around that not being the end of the world, as I'm in my early 40s so hopefully not much damage has been done. But the weird thing is my bloods also say my ferritin is 28.5, which seems on the low side of the normal range (11-307).

Is it possible to have low ferritin and haemochromatosis? If not, then does anyone have any ideas of what could be causing this?

Thanks so much. Have booked in for repeat bloods in four weeks time and will make sure the genetic test is done then but in the meantime can't help worrying...

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princessTiasmum Fri 02-Aug-19 12:11:54

I have Haemochromatosis, i am surprised first of all that normal range has been given to you as high as 307, so your ferrin is low, but there is more to HH than just ferritin levels
What symptoms were you having? and why were you having a blood test I had no symptoms at all, except slightly thinning hair,so was being tested for anaemia and thyroid, it came back as HH herditary haemochromatosis ], i have twin sons who were diagnosed about 35 years ago, and no one knew much about it then, but when i was tested first time it came back negative
Dont't worry too much,it is very manageable, when your ferritin gets too high you will need a venesection ,[about 1 pint of blood taking] this is done at your local hospital, and is virtually painless,
Have any of your family been testd,siblings will need testing and children ,if over 18,
My iron builds very slowly and i rarely need blood taking
I think diet can play a part in ferritin levels ,i am not a big meat eater, which helps to build iron, and don't drink much fruit juice which helps to build iron
There are a few facebook groups if you search who can give you more information than i can,
Although i have had this for about 15 years i am not really affected by it
My sons however have a lot of issues, but they don't look after themselves as they should either
Fatigue is one of the main symptoms and aching joints ,arthritis ,and digestive issues, which don't affect me at all
Life expectancy is normal if you look after yourself,
Liver problems are the main thing which is looked at,so alcohol can be a problem if you are a drinker,i don't drink, and never have
You may have a liver scan, they don't do biopsies with a needle now i believe, which i had, but if they do it was painless, for me
I'm sorry i can't be more help,
You could look up the haemochromatosis society as well

princessTiasmum Fri 02-Aug-19 12:19:06

OstrichRunning Are you in England? sorry meant to ask, as ferritin levels may depend on where you live, could be counted differently,meant to ask
Judging by your profile name i would think you aren't

OstrichRunning Fri 02-Aug-19 12:19:14

pricessTiasmum, thanks so much for your post.

It was just done as part of 'full bloods'. But I happen to have achy joints (in my hands) hands so that might be relevant.

It hasn't been properly diagnosed yet as the gp wanted a second blood test to make sure. My confusion really was over the fact my ferritin came back low, even though my transferrin saturation was too high at 79. I would have thought high TS would surely also mean high ferritin

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OstrichRunning Fri 02-Aug-19 12:20:17

I'm actually in Ireland, though no ostriches here either grin. HH is v high here apparently - 1 in 100

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OstrichRunning Fri 02-Aug-19 12:21:33

lowish I should say - it's at the lower end of the normal range

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OstrichRunning Fri 02-Aug-19 16:47:10

bump

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x2boys Fri 02-Aug-19 17:52:36

My mum has this ,she only found out about ten years ago she's 77 now so she was late 60,s she does have a lot of health problems but only in the last ten years or so so could be attributed to age ,she has osteoporosis which I don't know if it's related ?she recently had a stroke but again this could be age related ,.

princessTiasmum Fri 02-Aug-19 23:52:12

OstrichRunning i know about HH being high in Ireland,it is known as the Celtic Curse you might know this already
Osteoarthritis is common ,and also Osteoporosis, one of my sons already has osteoporosis
I was only diagnosed in my60s, .but i even question if i have it, as i am not suffering with anything really, not on any medication for anything n fact
My other son had a TIA a couple of years ago, and is on lots of medication
I have not seen my consultant for 18 months, seeing him in October, a bit annoyed really as i was told the last time that my tranferrin was abnormal, but not why, but i can't ask as the nurses don't know and i have not been able to ask hm, i am goin to ask for a printout next time as i have no idea of where i am
I hope you next bloods come back ok,
Apparently ferritin can be affected if you have any inflammation, but i think thats when its high
If i were you i would have a look on the facebook pages,at least you will get an idea, and you can read the comments without joining, unless you want to comment yourself

OstrichRunning Sat 03-Aug-19 09:55:29

Thanks again. Yes, I find it annoying when they don't give you the actual figures, it's a good idea to ask for aprintout. I'll try the facebook pages, and try to forget about it then until repeat bloods in 4 weeks!

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princessTiasmum Sat 03-Aug-19 16:11:29

OstrichRunning don't worry about it anyway, i know easier said than n done, but if you have caught it erly you shouldn't have many problems
I am still questioning if i have it at all, or maybe just a carrier,because i am in general good health and in my 70s now
My mother and grandmother lived well into their 90s, and never been in hospital or any medication , so i am hopeful
I have no idea where this has come from ,my sisters don't have it
My older sister lived into her 80s ,
I am going to ask for more details when i next see my consultant
My ferritin apart from when i was diagnosed has always been low, rarely needed blood taking, only about once a year, twice at most i don't know how they come to the conclusion it is genetic

Lilythepink3 Sat 03-Aug-19 19:35:35

OstrichRunning was your transferrin saturation test done after fasting for 12 hours? This could affect the result. I have haemochromatosis, also in my early 40s. It was a total shock, started at 442 and after 10 pints of blood think I am now below 50 which is what they aim for. My understanding though is that haemochromatosis itself is only diagnosed when ferritin is increased. You may have the affected genes but until you start to load iron you can't be officially diagnosed as having the condition. A high tran sat could indicate this might start to happen or just could be you had eaten before test! If you have genes doc should just keep an eye on your ferritin but is so low now so no worries! Like PrincessTiasmum says life is normal as long as no damage and with those levels be fine. My consultant says just keep within NHS guide to alcohol (which is same advice for everyone) and no iron supplements. It is actually v common, I have found loads of people now with it. Recently read in Ireland it is 1 in 20 who have the condition, although they may not know it, so all good that you found out!

OstrichRunning Sat 03-Aug-19 19:37:32

There is a genetic test you could ask for, if it hasn't been done already. It doesn't sound like you're having any trouble with it anyway, which is great. Just found out my BIL has it too, he's in his fifties and has never needed any treatment so far, so maybe it's possible to have it without suffering symptoms?

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Lilythepink3 Sat 03-Aug-19 19:38:01

Check out Haemochromatosis UK website and Facebook group, very informative.

x2boys Sat 03-Aug-19 19:58:51

Interesting about the Irish connection my mum.isn't Irish ( although ironically my dad who doesn't have haemochromotosis is!) although her dad's maternal grandmother was? I know it can be hereditar i wonder if my mum inherited from her dad ? Her brother has also been diagnosed with it .

x2boys Sat 03-Aug-19 20:00:10

Isn't Irish *

Lilythepink3 Sat 03-Aug-19 21:06:13

You need to inherit 2 mutated genes, 1 in 9 in UK carry just the one and are called carriers (1 in 5 in Ireland). Both my parents are carriers, one normal gene and one mutated and just my luck I inherited the 2 mutated! My brother is waiting on results, bet he gets the 2 normal!! You can have the 2 mutated genes though and never develop haemochromatosis, you only get diagnosed with it when iron starts to increase beyond normal levels. I have irish both sides of my family going back a few generations mind. I am the only one in my family to have it.

x2boys Sat 03-Aug-19 21:26:02

So both of my maternal grandparents must have had the mutated genes? Lily? out of four children both my mum.and younger brother have haemochromotosis her older brother doesn't have it, there was a first child who died in early child hood in the 30,s ( so I don't know if he inherited it) I don't have it and neither does my sister

Lilythepink3 Sat 03-Aug-19 22:06:50

So your grandparents must have at least been carriers, like my parents are. Sheer bad luck that your mum inherited both. It is a 1 in 4 chance, she could have inherited the 2 mutated, the 2 normal or one of each. If your mum has it means you will also be a carrier, doesn't cause any issues at all though. As I have the condition my husband is also going to be genetically tested so we can check if he has any gene so we can rule out the kids having it.

princessTiasmum Sat 03-Aug-19 22:41:21

Although i have been told i have it, is it possible for someone to live into their 90s and not know,i have no ida where mine has come from, my ex h says he hasn't got it ,yet my twins suffer badly with it, so if ex hasn;t got it and i have no symptoms and no one else in my family has got it how can they say it's genetic
My eldest son from first marriage has been told he has it, but since he moved away and saw a different Dr, new Dr says he hasn't got it and his iron and ferritin is normal,and as far as we know no one on his fathers side has it
I am going to question all this when i see my consultant in October
'

Lilythepink3 Sat 03-Aug-19 22:55:55

The Dad of your twins must be a carrier of one gene otherwise they wouldn't have it. You must be at least a carrier with one gene or have the 2 mutated genes. You can still have the mutated genes and not go on to develop the condition, don't think they know why. Your parents might not necessarily have had the full condition but must have carried the gene to pass it down to you. Everyone has 2 sets of genes, one from their mum and one from their dad. The genetics lab said it's so common to carry at least 1 gene that there is no point in testing everybody. 1 in 9 have it in UK and 1 in 5 in Ireland

EdtheBear Sat 03-Aug-19 22:57:10

Women tend to be diagnosed later than men mainly because women use their ron stores in pregnancy and monthly cycle.

As long as it's found and ferritin levels kept in check it shouldn't cause too many problems.

During pregnancy Blood Doc was happy to allow my ferritin levels to rise. He also advised if I was advised to take iron, to take it and they would deal with any excess once my pregnancy was over.

princessTiasmum Sun 04-Aug-19 14:04:34

I know their dad must be at least a carrier, but he denies it, i am not sure whether i have it or not, my consultant says i have, another consultant although from a different area of medicne says he doesn't think so, and my own Dr says i must have it mildly, the llast printout i got which was 18 minths ago said Transferrin abnormal, no ida what that means as i said,not seen consultant since then, was supposed to see hi last October, but wasn't sent an appointment ,when i rang to ask why the secretary said i should have rung to make an appointment, i am usually sent one,asked the nurses where i go for blood test they don't know, said they only take blood
I have only ever had 2 printouts and both had very low ferritin,
Never had a ferritin above 100 except for last time after 18 months, and had a VS, but it's rare,i load iron very slowly it was 194, after venesection it went down by 100
I don't feel good when its too low,

princessTiasmum Sun 04-Aug-19 14:08:54

Many years ago obviously, and pregnant i had to have iron injections, so was a bit shocked to be told i have Haemochromatosis,and cant understand why my eldest son, different father was told he had it, now told he hasn't

Powerplant Sun 04-Aug-19 14:28:16

Listen to the episode of Dr Mark Porter Inside Health Radio 4 on Haemochromatosis maybe helpful.

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