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Waiting on test results for Heamachromotosis. How long should they take?

Posted , 6 users are following.

sunni13905
sunni13905

  I had bloodwork done once a week for a month and all my levels were elevated.  I was sent for the genetic testing and still haven't heard back. I had the testing done over 6 months ago. Some of the symptoms I can see in both myself and my mother.  Thinning hair. skin tone...heart problems.etc.  I'm only 39 but have been having these symptoms since I was in my early 30's and like you thought early menopause. I also had the same type of hyst. Though I live in Canada my ancestory is of Irish,Scotish and English descent.  I've been thinking of actually changing doctors because the one I'm currently seeing doesn't seem to have many answers.  One issue if I do have it is I don't do so well with bloodletting.  The first two times I did it my blood pressure dropped that much that I passed out.  The doctors have recommended that I don't do it anymore.  Can anyone shed some light on the amount of time it should take to get these results back?   Also has anyone used the medication instead of the bloodletting?

2 likes, 20 replies

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  • s230406
    s230406 sunni13905

    Posted

    Hi Sunni, I can't answer your question but I wanted to reply because it's really disheartening when no one answers. Hopefully someone in Canada will read your post and answer you too! I had the gene test one week ago after bloods showed raised serum iron, moderately high ferritin and high transferrin SATs. I'm in Ireland so the chances of haemo are high. I have no lifestyle or other issues that would explain the blood results. I think you should consider another GP, it doesn't sound like your current one is very interested. Hope you get answers soon. X
    • sunni13905
      sunni13905 s230406

      Posted

      Thanks for the info.  It was actually your discussion that I read that made me join up and ask my own questions.  We have a very similar symptom and health history.  Do you notice that your hair is thinning?  Mine's been going at an alarming rate.  I've been researching Heamo on different sites and though some of the symptoms are different depending on which one you're on I've got the ones that are consistant.  I've also noticed that my mother and grandmother has and had quite a few.  Which is where the Irish side of my family comes from.  My great granddad was from Ireland.  I've been trying to convince my mum to go to the doctor for the screening.  Two years ago she was showing symptoms of Liver chirrosis and she barely drinks (later confirmed it wasn't) and last August she had a lower right frontal heart attack. Also all her uncles and her aunts have passed due to heart issues.  I myself have a murmur.  I have three girls and I want myself and her to be around for them for quite a bit longer. 
  • matts
    matts sunni13905

    Posted

    I used Genetrack Biolabs which was based in Canada, I didn't use expedited shipping, I live in the US...it took about 3-4 weeks to turnaround via snailmail if I remember correctly? If you live in Canada and used them, it would probably be a little faster.
    • sunni13905
      sunni13905 matts

      Posted

      obviously I'm going to have to consult another doctor.  I'm tired of feeling "off" all the time.  I live in a rural community in Newfoundland and at  times our medical services are downright ridiculous.  thanks for the info!

       

  • marie86421
    marie86421 sunni13905

    Posted

    Hi Sunni

    It is not uncommon for patients to pass out when they have had 450ml of blood taken out.  Where I have my venesections, patients are given fluid intravenously in one arm while being venesected in the other arm.  This stops any chance of the patient passing out.

    Maybe you could suggest this to your doctor.  If you do have haemochromatosis you need to be having regular venesections to reduce the iron in your body.

    I have ferroportin disease (haemachromatosis type 4) and does not respond well to phlebotomy, but we get round it by being bled less frequently and taking a smaller amount of blood.  I was being bled every fortnight with only 350ml being taken out.  Also, I have a smaller needle because I am a needle phobe and this takes longer for the blood to come out.  The usual venesection pack takes about 5 minutes, I take about 15 to 20 minutes.  My blood pressure is on the low side and I have no side effects other than feeling tired the next day after venesection.

    It might be useful having a chat with the haematology department to see if they are able to offer you the fluid whilst being venesected.

    There is another alternative but it does come with side effects and that is chelation therapy.  This is used for those patients who cannot be venesected.  You can look up chelation therapy and find out what is involved with that particular form of treatment.

    Hope this helps.

    Best wishes

    Marie

  • haircrazydaisy
    haircrazydaisy sunni13905

    Posted

    Hi Sunni, 

    I'm very new to this but received my genetic result within 2 weeks.  I'm in the UK and had the test done at my local doctor's surgery, on the NHS.

    Maybe you should chase up the results?

    H x

  • sheryl37154
    sheryl37154 sunni13905

    Posted

    Someone has 'lost' or ignored your test results.  They don't take that long - maybe a week and a bit.  Be assertive and ask your dr to find them or do them again.

    What levels were your blood results?  If you don't have a copy, ask for them.    You need Iron Studies tests.  At minimum you need ferritin iron and transferrin saturation % (TS%).  These are the two markers required which will indicate if you have HH.  Let us know what they are - we experienced HHers can help you out there.

    One in 200 with northern European heritage have HH.  One in 80 if you have Irish heritage.  One in 7 are carriers.  Actually they are finding a lot in Portugal too which is southern Europe.  Anywhere where the Celts and the Vikings have been.

    In Canada you have the support of Prof Paul Adam who has researched HH for decades.  He used to be the blogger for the HH assoc in Canada.  He is based in London, Toronto.

    Look for local support groups and contact the HH assoc for information and support.

    If you do have HH, and need venesecting (which you will), ask for a saline drip at same time they are venesecting you.  That could help with the problem you have.  Stupid drs recommending that you don't do it anymore!  If you need venesections to save your health and your life, they have to find other ways to do it.  If it is still so bad, there are chelators, e.g. Exjade but they can have unpleasant side effects, but better than nothing.

    We have to educate ourselves to get the right treatment, and be assertive.

    Let us know the results if that is ok with you.  We all learn from each other.

     

  • s230406
    s230406 sunni13905

    Posted

    Hi, my Gp was trying to get me on the phone today but I missed her. I will ring her back tomorrow. I assume it's because the results are in, so tomorrow I'll know for sure. That's one week I waited, not too long. I'll let you know.
  • sunni13905
    sunni13905

    Posted

    Thank you all for your input.  It has made my decision to find a different doctor that much easier!
  • sunni13905
    sunni13905

    Posted

    another thing.  Does anyone have any weird swelling and stiffness?  I have been having wicked water retention but only on my right side. some days the top of my right foot is almost twice the size of my left and most mornings lately it's all I can do to walk across the bedroom floor.  I can't sit in one position for more than a few minutes and when I get up to walk again the first couple of steps are painful.  I've been just chalking it up to getting older and menopause.  I am taking water pills for the swelling but they really don't seem to be working. 

     I have a doctors appointment with a new doctor tomorrowbiggrin  I will be asking for results and if they still are not available will ask to be retested. Will post results when known

    • s230406
      s230406 sunni13905

      Posted

      Hi sunni, just been speaking to GP, my gene test is positive so I'm being referred to gastroenterologist in local hospital and he/she will decide on next steps. Liver function test was normal so that's good. All in all that's been 4 weeks since first blood test, then fasting iron studies, liver function test and gene screen. You mentioned hair loss, the hair on my head seems ok but I have very little hair on my legs and under arms thinning too (not complaining about of that!) . I am constantly exhausted, in bed sleeping before my children most nights, have hip and leg pain, awful headaches and alternating diarrhoea and constipation. Oh and left hand first two fingers sore and stiff.

      Good luck with your quest for a new doctor. I am lucky to have a GP who took my complaints seriously and understands HH.

      X

  • sunni13905
    sunni13905

    Posted

    back from the Dr now.  according to new guy I should have had my results back in January. Because they were sent out to be tested they wouldn't be transferred through the hospitals computer system and would have come paper mail.  He thinks they were probably misplaced or lost.  He has asked the clinic I visit to call the main lab to see if they can find out anything.  I did ask him about my levels for ferritin and from 4 different past bloodworks they ranged from 197 to 277 (last blood work)  I was busy thinking about the signifigance of those numbers that I forgot about asking him for any others or a printout..  I did have more blood work done today and if these come back high he is going to send me for another HH screening. Though with the amount they took today I think it could count as my first venesection...lol
  • sunni13905
    sunni13905

    Posted

    Should my husband be checked to see if he's a carrier before I take my three daughters?  My oldest is 16.  I read how it's passed down but never really figured out what the percentage rate was for kids if one parent had it and the other didn't .  Also, I've convinced my mom to go get the testing and my brother decided to too.  When I was telling her about the different symptoms and side effects she mentioned she had ones that I didn't even know about (hypothyroidism was one)
    • sheryl37154
      sheryl37154 sunni13905

      Posted

      Your children are entitled to a genetic test if you are homozygous or compound heterozygous.  However, you would probably be hard pressed to get a dr to agree to do it when they are under 18.  Worth trying though.

      If your genetic test shows above, then they will definitely be carriers.  I would say the chances are 50:50 if your husband is a carrier.  If dr knocks back testing children at this stage, definitely get your husband tested and you will have more knowledge about chances until they are of age.

       

  • catherine96604
    catherine96604 sunni13905

    Posted

    Hi Sunni,   

    Nice to blog with people who have hemochromatosis.  The fact that a physician stated not to get phlebotomized with elevated serum ferritin levels is disturbing.  You can hydrate yourself prior to treatment.  You can also receive I've fluid prior to bloodletting.  If you are on antihypertensives maybe take them after treatment.  Maybe do the treatment slowly.  My symptoms of Hemochromatosis started in my teens.  I would wake up every morning with abdominal pain that would go away as the day progressed.  I also had elevated liver enzymes in my early 30's and my physician said many people have elevated enzymes and dismissed the issue.  With my pregnancies I received iron supplements.  I nursed my children so I did not menstruate for a few years.  When I was 35 my serum ferritin levels were 3000!  My symptoms at the age of 58 are Joint Pain.  Feet, hips and now my knee is bothering me.  When I was younger I had no stamina for sports.  I did get short of breath on exertion.  I never complained of feeling tired.  The abdominal pain went away when the iron levels came down.  I have no trouble with thinning hair.  I do get cracked and splitting on my hands don't know if that is a symptom.  I have gone into atrial fibrillation a few times and I do feel the palpitations at times.  My children are carriers.  Prior to them being genetically tested I told the pediatrician not to record on their charts until they were older so the could get life insurance and not have to pay higher rates if the had the disease.  I also have very little hair on my arms, underarms and legs.  For me the worst part is the joint pain.  The statements you read about blood being darker and thicker is not true.  Well I hoped this helped and good luck🍀

    • sheryl37154
      sheryl37154 catherine96604

      Posted

      Catherine, your range of symptoms and complications just shows how wide and varied an effect HH has on people.  3000 at 35 is pretty bad - the same as what happens when a woman has a hysterectomy at a young age and is left undiagnosed despite complaining of classic symptoms.

      I could not find any mention of dark and thick blood in this lot of posts but I have mentioned it myself in other posts.  It is a problem for some people and those of us who have mentioned it are not alone.  See

      http://www.dailystrength.org/c/Hemochromatosis/forum/11085312-thick-sticky-blood

      HH often affects everyone differently.  4 months ago, I got so fed up with lack of advice regarding this problem, and started taking 100mg aspirin.  What an amazing difference it made.  Venesection was so much easier.  I felt lighter, walked faster, wasn't dragging that ship's chain and anchor around with me.

      As you can imagine having that thick blood in my body, no wonder I had such body pain and fatigue.  I still crash and burn early but now manage to get a bit more done in a day.  It appears that fatigue is not one of your problems - amazing (you say you did not complain of feeling tired - you did not complain or you did not have fatigue?).

      I was diagnosed when one of my hips broke up from osteo-necrosis.  My osteo surgeon said my blood was so thick with iron that it was blocking the finer capilliaries that feed the bone, so the bone died and broke up.  6 weeks after having that one replaced, the other one died.

      Plus it was invading my heart.  I had left side chest pain consistently for 12 months before diagnosis.  Cardiologists could not find a problem.  They knew nothing about HH.  This pain dissipated with each venesection.  Whenever my ferritin level went up for some reason, I had the chest pain again and now arrythmia.

      I do have trouble with thinning hair.  I use a special shampoo which eventually gave me my hair back at end of last year, now I am shedding it all again.

      I had no stamina for sports either - it was so embarrassing as I was good at everything else, and fine motor skills.  However, when young we often think of these things as normal.  My legs ached all the time - was told it was growing pains.

      Then there was the digestion problems (probably the abdominal pains) and had huge swollen area where my liver is - I can see it in my childhood photos.  I finally discovered I cannot digest starches/sugars and have eliminated them (mostly).  I have since found research that this is a common problem with HHers.  And my body often behaved as if I had diabetes, but tests were always normal (also as a child).  Have since read research that we often have diabetic symptoms without having diabetes.

      However, the medical fraternity would say that we would not have HH problems as children as we would not have started loading iron.  We would use up the iron in our growth.  So there is still an awful lot to be discovered about HH.

      BTW, HH is a metabolic iron disorder - not a disease.

       

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