How Do You Know If You Have Hemochromatosis?
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- เผยแพร่เมื่อ 2 มิ.ย. 2021
- How do you know if you have hemochromatosis? Is there a blood test, a genetic test, what do you have to do to figure this out? In this article we will look at some of the blood testing, and genetic testing that confirm and tell you for sure whether or not you have hemochromatosis. There are different scenarios where you may have high iron and blood levels suggesting hemochromatosis. We are going to look at the specifics. We will look at some of the lab values that suggest you might have this but first a little bit on what hemochromatosis is. Hemochromatosis is a genetic disorder of increased iron absorption. There are certain signs, lab values and physically signs that one might see if they have this. In later stages you might see manifestations of on the skin, for instance. There are also a lot of different symptoms that one can have from this. We are not going to get into all of the signs and symptoms in this video. Instead we want to discuss the lab tests and the genetic tests that suggest and confirm hemochromatosis.
Typically people are asking this question when they have lab results that suggest you might have this (after a google search). The results that come up in labs that may hint or suggest this are things like elevated red blood cells, elevated hemoglobin, elevated hematocrit, elevated serum iron, decreased total iron binding capacity, and elevated ferritin. Of course there are a lot of things other than hemochromatosis that can cause these lab values to be elevated or decreased.
We won't go into all of the different scenarios that can make things go up or down. I do want to point out a few things though. An elevation in red blood cells and hemoglobin is common when you are on testosterone replacement therapy. This can occur in both males and females. Of course, ferritin can also go up in people with autoimmune issues or just really sick with a lot of inflammation. Of all these tests, the one that raises the most suspicion for having hemochromatosis is the ferritin. At least in the case that there is no increased inflammation or autoimmune issues.
When it's above 300 in females you definitely should be suspicious maybe even a little bit lower. When it's above five hundred for males you should be suspicious too. It really depends on the age of the person and what's going on with them. For example females are menstruating losing a lot of iron. So if she has an iron that's above two hundred and fifty and she is still menstruating that is a red flag (especially if there is no inflammation). For males, the diagnosis or alarm tends to come up a little bit earlier because they're not losing blood on a regular basis. Still just having these elevated numbers does not tell us you have hemochromatosis you have to do more testing more investigation to discover this.
Testing For Hemochromatosis
Iron saturation or serum transfer saturation is the most sensitive and specific blood test that you can do for hemochromatosis. When you do this test and it comes out positive, we have a high conviction that you have hemochromatosis. What is a positive result? This test shows a percentage and the result will be different for males and females. When it's above forty to forty five or anything higher for males then that is highly predictive of hemochromatosis. For females anything above thirty five to forty is also highly predictive of hemochromatosis .
In some cases the other blood tests mentioned above may be normal but you still have a high transferrin saturation. This just means you are catching it earlier on and you will get all the sings of hemochromatosis in the future (if not treated). The transferrin is the transport protein for iron. As the saturation on that protein increases, more of it gets transferred into storage which is the ferritin protein. Ferritin levels then go up and increase as a result. Of course, ferritin can go up for other reasons outside of saturation of the transferrin. Ferritin serves as a way to safely hold iron and prevent the iron from causing free radical damage. It's a safe way to store and release iron on an as needed basis. Iron is toxic to cells when there's too much around. If all the iron we needed was just freely floating around and all the transferrin carrier protein was fully saturated, your more likely for the oxidative damage to the cells.
The protein called ferritin is a way to protect the body against this oxidative damage. Once that iron starts building up higher and higher that suggests that you're absorbing too much or consuming too much. Yes you could just be consuming too much when you have a high ferritin. There is genetic testing for hemochromatosis as well. This is also a very reliable way to understand whether or not you have hemochromatosis. The main alteration that creates hemochromatosis is a homozygous alteration in the C282Y gene. - วิทยาศาสตร์และเทคโนโลยี
I've felt like crap for the last 10 years and literally just found out today that I have iron overload. All the docs I saw said my Ferritin was normal at 66 and my most recent ferritin was 152 which is still considered normal. However, I did a TIBC and it showed I had a iron saturation of 76%. I do have the H63D gene which again I just found out thanks to your video. I am now going to donate blood and hopefully this will fix my issues. I am now 58 and one really strange thing I saw regarding my blood work was my SHBG was sky high at 153 and it normally averages in the high 60s. This in turn lowered my free testosterone making me feel even worse. My symptoms have really increased the last few months to the point my heart rate increases significantly with the mildest exertion, out of breath, weak legs, joint pain in hands and neck, waking up frequently at night, not sleeping well, severe fatigue, and most recently horrible anxiety. I literally just found out today that my saturation was 76% and thanks to your video I now know why!
Great to hear! Keep us posted will be interested to hear if you notice much after donation especially since ferritin is not that high. Im not sure about the SHGB in relation to iron i would think there is not a relationship there.
I have the genes from both parents and have been diagnosed with HE and Apha-1 as SZ. I had severe iron overload effecting every part of my body. Severe joint pain, etc.. My blood was so thick and full of particles they couldn't even drain a pint of blood. Just 1/2 of a pint could take up to 3 hours of flushing the IV and changing it to different locations. I was miserable. I completely changed my diet to Mediterranean diet minus red meat. After about a year of my change and regular phlebotomies, my last 2 in a row took 20 minutes and ran like a faucet. I'm so thankful. Still have joint pain and fatigue but its eased in its severity. Thank you for your video!
That’s great thanks for sharing!
My guess is that eliminating red meat didn't help it though. I have a brother who is vegan and was still diagnosed with it. He had to do all the things you did as well, and has muscle dystrophy. I haven't been tested yet but will be soon.
Good video about the labs. I want to be able to understand my labs beyond ferritin. I'm homozygous C282Y and just started "maintenance" but don't yet know what that looks like for me (because of a lab mistake last time). I don't really understand how much I can gain before a phlebotomy (such an ugly word). I need to write down what you said. Thanks!
My cbc and other blood work is ok, except i have ferritin 744, then urate is 506 or 8.1, and bilirubin of 20, i am more concern of ferritin, does taking vitamin c everyday with 1000mg for 4 yrs is the posible cause of high ferritin?. I had gout attack 2 tyms already before. I always also eat meat a lot like pork, and moderate alcohol drinker.
Can I donate by plasma donation and why Canute be use for people that has low iroy
How would I get tested for this, DNA test this is, my GP is reluctant when I have asked him previously, even though FH is in the family
Glad I came across this video although as someone who suffers from health anxiety and is a hypochondriac I probably should stop researching. I recently had a ton of blood work for something unrelated but as someone that unfortunately never truly trusts what their doctors tell them because I’m just crazy I guess I pay too much detail to my results even when my doctor doesn’t have concerns. With regards to this condition my all the test you mentioned for me were within the normal range although I do recall my iron I feel was normal but in the higher range as well Ferritin the TIBC was normal. Can these test fluctuate? Or be spiked I now believe I may have this condition and my doctor just didn’t mention it to me. My Ferritin was around 300 and my iron 160 I did forget to mention since I heard you mention in video about autoimmune. During these blood test I did something called ANA flex which came out positive. I have no symptoms of anything but he said eventually to follow up with rheumatologist. But again there was no immediate concern is this normal ? 37 yr old male by the way. Would appreciate any thoughts.
Transferrin saturation is one of the more important tests. This one will fluctuate a bit based on diet and supplementation with iron. But the higher it is above 45 the more likely there is an issue
Mines 47.8 others are normal testing for haemochromtisis today can you have it just on transferin saturation
@@swintegrative and u have fybromyalgia
Hi I have had a HFE gene test , results c282y heterozygous & h63d heterozygous compound I have 56% saturated iron but low 25 TIBC 43 iron 24 I’m in Australia & doctor didn’t say anything just come back in 3 to 6 months for another iron test , what do you think about these results
Well usually the idea is you want to keep iron saturation and ferritin in normal range
Please tell me more ! Blood bank said cost 40
Doll just to go purge 1 time I’m tired of this pain and way over Brain fog . Thought I was going crazy wow 63 and just knowing
My iron saturation and free iron fluctuates between high and borderline. Ferritin at 170. I’m a 33 year old male. Recently started getting elevated liver enzymes so I’m being my own doctor since the doctors I’ve seen have no clue what’s going on. I just found out today I have what’s called Digenic hemochromatosis (one HFE mutation and one non-HFE mutation. ( one copy of c282y and one mutation in TFR2 gene mutation). Also called type 3 hemochromatosis if I’m not mistaken. My hemoglobin is usually around 17.5-18 and hematocrit usually 49-53 range. Can hemochromatosis cause elevations in hemoglobin and hematocrit? From the little research I did they are usually not related that’s why I’m a little concerned I may also be dealing with polycythemia. Any info appreciated.
Diagnosed with hypothyroidism a few years back, level was 194 TSH. Bloods last week detected iron serum high and transferrin saturation 55.22% I’m a 36 year old female. Is this haemochromotis? Haven’t had ferritin tested. I do get shortness of breath, tiredness and abdominal pains.
It could be but i would not rely on one trasnferrin saturation test. you have to check more than once and make sure you are not taking any iron.
Is this the same for juvenile hemochromatosis If total iron is on the high side 151 =normal but saturation is 50 - slightly high in 17 yr old female-bilirubin 1.2 slightly high- also have a brother with hypogonadism age 14 - is that reason enough to request more testing?
Not sure for pediatrics. When someone’s saturation is 50 and they don’t eat red meat or take iron supplements I would look at little closer possibly retest
Can chronic over-exercising (6-12 months of higher intensity training 6 days per week) cause elevated ALT and AST?
Check out my video on that topic… answer is yes
@@swintegrative thank you, Doctor.
Where would I get DNA tests for this, my GP is reluctant to progress this
They do it at quest diagnostics and labcorp yo may need a doctors order depending on the state you live in. You could also just see a hematologist.
My ferritin is 256 is this considered very high for a 62 yr old? Sounds like it’s not high enough to be the genetic type but perhaps a side effect of having untreated hashi’s? I get post exertional fatigue so was curious if that is a symptom of hemochromatosis. I’ve had such bad luck with doctors I don’t know who to go to anymore, they won’t believe I don’t feel good unless I’m actually dead.
Hashimoto’s does not cause elevated ferritin.
That’s interesting in my labs here in US normal range goes up to 400. Mine was right around 300 but they said it was Normal, this is the scary part of not truly understanding these exams.
My iron saturation is 59% but ferritin always runs pretty low around 45-90. Total iron binding capacity is also high but not out of range
Iron saturation also goes up w iron rich diet
@@swintegrative yeah i ate 2-3 lbs of red meat everyday all last year lol. is donating blood my best option? thanks for your info!
@@swintegrativeI found out my ferritin levels were almost 700ng/ml and the normal range is 50-350ng/ml. I feel constantly tired and fatigued all the time, and have been so for the past 5 months.
I'm 26 male
My Iron Saturation levels went from 38.7 to 50% in less than 3 mos. Female/61yo, hypothyroidism, hashimoto's and now a 4.2 cm thyroid nodule.
First test level, was instructed to avoid high iron foods. I did. Second test, higher. What should I ask from my Dr.
Hi Sandi the test is going to vary slight from one day to the next. This seems like a big variation though. Especially if u were trying to avoid iron. It might be in a supplement u recently started…? It’s hard to answer this question though without knowing more detail but your doctor should know what to do or send to hematologist.
We have to bloodlet thats the only way
So my labs just came back and my ferritin levels seem normal 43 the range says (16-154 ng/ml) HOWEVER my saturation is at 64%!? Iron Total is 191 range for that is (40-190 mcg/dl)
Sounds high, typically would retest to confirm. Check with your doctor
Why can’t I have blood taken out while doing plasma ?Will that stop because of the iron will that stop now to meaning no one will be able to us my blood anyone’s
I had my regular iron blood test recently and it was iron overload my doctor said I have hireditry hemochromatosis i asked for a genetic blood test to find out weather I do have it or not I do have IBS gastric reflux can that cause iron overload I am no menapause I also need liver and heart check my iron levels were 80 my doctor said I don't need to donate blood but I have lost weight misteriusly I'm so confused
Sounds confusing to me too but not everyone that has hemochromatosis genetically even need to donate blood
Do you have a spot rash with this
You can get skin discoloration from long term high iron.
I’ve been I’ll for many years. A doctor that I saw for the first time sent me for a ton of blood tests. He called me back with results. I never heard of such a thing. Too much iron. I just had the genetic test and I am waiting for the results. I was also surprised to see another name for Hemochromatosis, The Celtic Curse. Well, my paternal GM is from Ireland, Paternal GF from Scotland, maternal GM from Britain and maternal GF from Ireland. Ancestry and symptoms both show a risk. Very interesting.
Wow that is interesting. Good luck
Well I’ll keep in touch hope all goes well
Ok gonna try to sleep. Just want to learn what I can stay safe talk tomorrow
Funny....my ANCESTRYDNA shows Celtic region and Irish
Why can’t I have blood taken out while doing plasma ?Will that stop because of the iron will that stop now to meaning no one will be able to us 7:42 my blood anyone’s
I had ancestry and 23&me do my d.n.a i am 99.9% european from ireland & wales.
My daughter (15) has been extremely tired, irritable, depressed and anxious. This has gotten increasingly worse as the year progressed. (She had mono about 2 years ago.) Her mental health PA ordered lab tests. Ferritin 40.6, Iron 166, TIBC 241, Transferrin Saturation 68.9%, WBC 5.49, RBC 4.58, Hemoglobin 13.4, Platelet Count 331 are a few of the blood values. Her TSH is 0.608, glucose 97, Vitamin D 35.3, and Vitamin B12 750. She doesn't take vitamins. Her only medication is Wellbutrin. She eats meat but not even every day. Everything on the lab test is in the average range except transferrin saturation. My daughter has regular, heavy periods, so this seems incredibly high. Her PA is on vacation, and her pediatric doctor has not had time to look at the results. My main question is whether I should go straight to seeking out a hematologist who would be more aware of the implications versus waiting on her pediatric appt which is over a month away. My husband and I are both carriers of C282Y, Gene: HFE, Marker: rs1800562. I'm also curious if I should get my sons tested as well. My main worry is if organ damage is occurring while I'm sitting here waiting on appointments. How quickly does organ damage occur in these situations where transferrin saturation is high? I've looked everywhere and cannot find good answers. From what I've read and watched, levels over 45% require treatment.
It usually takes many years so catching it early is key. There are other reasons for high iron saturation too. So important rule those out and /or get the genetic testing with hematologist if needed.
@@swintegrative Thanks so much for the reply. That puts me at ease knowing it takes time for damage to be done. I'll wait and see what her pediatrician says and definitely get some genetic testing completed. I really appreciate your informative videos!
@@drewmark19hiya. May I ask what the outcome was with your daughter please? Hope all is well.
@@jadep4802 We actually had genetic testing done, and she does have non-juvenile hemochromatosis. It shouldn't be an issue until she goes through menopause. Sadly, though, this was not the cause of all the symptoms I described. My daughter is a drug addict, and we had no idea at the time. We have had a long journey since then and still are dealing with the repercussions of addiction but are praying for brighter days.