I have had a variety of symptoms the past few years. No one that I have seen seems to be able to put their finger on my problem. I have swollen and sometimes painful toe joints. (second, third and fourth toe on one foot, second toe on the other) I have developed a hard "cyst" on the back of my heel which is usually painful. I have right flank pain that lasts for a few weeks then goes away. Heart Palpatations that seem to take my breath away ( never when the i am at the doctor though), I have had bouts with high blood pressure. Right now that has been running normal though. I have had severe back pain that might last for a month or more then will go away.

Both of my great grandparents were carriers for hemochromatosis. My great uncle has developed the condition. I am 34 years old and obviously menstruate, but I had been on Depo provera for 2 years and did not have any menstrual period for almost three years. Could this have started all of this.

I have been tested for lyme, negative. My blood count was normal. Sed rate running in the 70's. Slightly elevated ANA, tested negative for lupus.
They are getting ready to send me to a rheumatologist but my tests don't seem to be conclusive for anything at this point.

Any suggestions?

does your parents have hemochromatosis? If they do not have the gene or hemochromatosis you will not have it. It does not skip generations

Expression of hemochromatosis can skip generations. Not every person with the genetic markers will develop hemochromatosis - not even 100% of homozygotes (look up "penetrance" and "hemochromatosis" on a search engine). But even so, your parents could both be carriers (heterozygotes) and not express the disease (although some hets do), and could each give you a copy of the gene, making you homozygous. Regardless, your doc (if he/she is a good doc) oughta help you find out what is causing your symptoms. An iron, transferrin saturation, and ferritin test would be the first step (instead of going directly to the hemochromatosis genetic tests) - especially since you are concerned and since you have a family history that includes HH. Keep in mind that there are other potential reasons for your symptoms.

Found this just now at http://www.ahrq.gov/clinic/uspstf06/hemochromatosis/hemochrev.htm and says that only 50% of homozygotes develop iron-overoad.

Background: The U.S. Preventive Services Task Force (USPSTF) has not previously considered screening for hereditary hemochromatosis for a recommendation as a clinical preventive service for primary care clinicians.

Purpose: To conduct a focused systematic review of hereditary hemochromatosis screening relating to 2 USPSTF criteria, the burden of suffering and the potential effectiveness of a preventive intervention, to determine whether evidence is sufficient for a USPSTF recommendation.

Data Sources: MEDLINE®, CINAHL, and Cochrane Library databases from 1966 through February 2005. The authors supplemented literature searches with source materials from experts in the field and the bibliographies of key reviews and included studies.

Study Selection: Studies were retrieved to answer 3 key questions:

1. What is the risk for developing clinical hemochromatosis among those with a homozygous C282Y genotype?
2. Does earlier therapeutic phlebotomy of individuals with primary iron overload due to hereditary hemochromatosis reduce morbidity and mortality compared with treatment after diagnosis in routine clinical care?
3. Are there groups at increased risk for developing hereditary hemochromatosis that can be readily identified before genetic screening?

The authors critically appraised studies using quality criteria specific to their design.

Data Extraction: The authors abstracted all studies into evidence tables using condition definitions and diagnostic criteria.

Data Synthesis: Data were insufficient to define a very precise estimate of penetrance. Available data suggest that up to 38% to 50% of C282Y homozygotes may develop iron overload, with up to 10% to 33% eventually developing hemochromatosis-associated morbidity. Prevalence of C282Y homozygosity is higher in family members of probands and other high-risk patient groups defined by signs, symptoms, and phenotypic screening.

Limitations: This review considered genetic screening for HFE-related hereditary hemochromatosis in C282Y homozygotes only. Available research is limited, is based solely on observational designs, and is plagued by poor or inconsistent reporting.

Conclusions: Research addressing genetic screening for hereditary hemochromatosis remains insufficient to confidently project the impact of, or estimate the benefit from, widespread or high-risk genetic screening for hereditary hemochromatosis.

Hemochromatosis Does Not Skip Generations. Your Parents May Have The Gene But You May Not Have Hemo. But If You Do Have Hemochromatosis One Or Both Of Your Parents Have The Genes Or Hemochromatosis. That Is What I Meant In That Other Statement. You Do Not Skip Your Parents And Get It From Your Grandparents

The **expression** of hemochromatosis is the key thing here. Your parents can have two copies of the gene but not express the disease. Having the genes is not the same as having the disease. Only half, or less than half, of the people with 2 copies of the gene will actually have hemochromatosis. But even if your parents do not express the disease (and therefore do not have hemochromatosis) you can still have it. Your mother could have inherited one copy of a HH gene from her mom, and a normal gene from her dad; while your dad could also have inherited one HH and one normal from his parents - in which case they are even less likely to express the disease. But, in that situation, 1/4 of their children would inherit an HH gene from each parent and then be more likely to develop the disease than either parent; another 1/4 of their children would inherit no HH genes, while the other 1/2 of their children would be carriers, like their parents. It's simple genetics - determining the likelihood of who gets the genes. But whether people with the genes will express the disease is not so simple. There seem to be other factors that determine whether homozygotes (people with two copies of a specific HH gene), complex heterozygotes (people with a copy of one HH gene balanced by a normal gene in that spot from the other parent, and with a copy of a different HH gene balanced by a normal gene from the other parent), and heterozygotes (people with only one HH gene, balanced with a normal gene from the other parent) will develop iron-overload. Screening tests have shown again and again that at least half the people with HH genes will not develop the disease HH.

Some people develop HH without having any of the known HH genes.

That being said, Jester123, I would certainly look into it if I were you!

Now I have to go off and run some PCR / genotyping experiments on some totally unrelated genes all day and tomorrow. Ugh.

Juice I Do Know All This. I Have Hemochromatosis.

Mermaid - I wasn't trying to say you didn't know about all this. I was trying to clarify for Jester's sake, as he/she was trying to understand how it works. My intent was not to offend you in the least. Nevertheless, I'm sorry if you were offended.

Thank you for the input. I had an iron panel done today, which included all the tests that were mentioned earlier. My results should be in early next week. I don't know if my PCP really thinks this is a possibility or if he is just trying to pacify me. I figured it wouldn't hurt to look into the possibility, since they haven't given me anything else to go on!!

Good! Your doc sounds ok. I hope you post the results, even if the panel is "normal". I'm always curious to see how these things pan out.

Hello Mermaid989!

My husband has HH and has the double gene. My son was tested last week finally, he is 26. Trying to be proactive here! Our GI doc said, he has a 50% chance of having HH. Our daughter hasn't tested yet.

I must say Juice82 your post confused me, information overload! I wish you could reword it for simple people like me LOL! Of course I have the basic idea. It is very informative and interesting but some of it confused me too much. FLFLOWERGIRL:)

Hi Flowergirl. Well It Was Good Your Son Had The Test. My Kids Have Not Taken It Let No Insurance To Cover It.
I Know Juice Confused Me. All I Know Is What My Doctor Tells Me.
Her Iron Was 192. My Doctor Would Say That Is To High. I Guess It All Depends On The Doctor. Mine Was 224 When I Started And He Said That Was Way To High. I Have To Go At The End Of The Moth For My Blood Test. I Know I Will Have To Get A Phlebotomy This Month. I Have Not Had To Have One Since April. I Think That Was Good Though. Well Have A Good Day

HH Results are in for my son, my dh has the double gene. My ds is a carrier only, he does NOT have HH/the double gene. The doc said for him to retest in 5 years. I'm still confused, is this because he can show symptoms and not have the dis~ease? He also said, at his age 26 that he wouldn't show it yet anyway????? FLFLOWERGIRL

yes my brother has the gene and the doctor says it can turned to the disease later in life. you just have to keep a eye on the iron. Have you yourself ever been check?

Mermaid, funny you should ask if I have been tested. I have for Ferritin which was a #2. I was ANEMIC and Iron depleated! Took me 9 months to recover the iron. I was extremely ill, they say from heavy periods. So, I don't think that I have that problem. They did say in the report that this does not rule out HH, I guess later down the road.

Iam guessing that my daughters outcome of testing might be the same as my sons? I hope insurance pays for this test will let you know. FLFLOWERGIRL

Flowergirl. Hi I Was The Same As You I Was Very Anemic I Could Hardly Walk Because Of My Periods Very Heavy Ones .now Look At Me I Have This. No Our Insurance Never Pays For This Kind Of Testing. Maybe Yours Will. That Is Why My Kids Are Not Tested Yet. How Is Your Husband Doing With His Blood Draws?

mermaid989--They only test the hematocrit when it gets to 30 then the doc wants to see him. He is 36 one week and 38 the next and he usually stays up, it's crazy. But the Ferritin is going down all the time. We never know until the doc runs the Ferritin tet which he won't do again until he hit a 30 hematocrit. I guess that shows the iron not sure. But he goes in ever Sunday to give bad blood.

So you can be anemic and have HH? Interesting. My husband and I were DX very close to the same time and the docs just laughed at us in disbelief that we were such opposites. FLFLOWERGIRL:)

If anyone thinks they might have some type of iron overload, please get a full set of iron tests run. I found out by accident when my PCP could not explain why some of my iron levels were off. I had a full set of tests and my serum ferritin came back at 2000. I had been diagnosed a year before with Type II diabetes and looking back, the only symptoms I had were the diabetes and arthritis in the knuckle of my left index finger and the large toe of my left foot. You can develop heart, liver, and kidney disease, diabetes, arthritis in the large joints, and for men, atrophy of the testicles, all due to iron saturation. This is an insideous (sp?) disease that has virtually no obvious symptoms. Good luck.

Bruce, you are so correct! My husband's SF was like 2700? It seems insane to me, but he had a liver biopsy which turned out fine, and he had go to phlebotomy once a week for almost a year. He's stays pretty normal now, because he's not taking vitamins with IRON and eating all the fortified with IRON (90% Shredded Wheat) foods that we stuff down our gullets! I had my children tested - just whenever they went in for their annual doctor visits, and the doc just gave orders for blood work for their annual. We didn't specify any specific disorder or anything...Turns out both my boys have it (my youngest was at 365, normal was 20-50)! I had fed him baby cereal mixed with applesauce almost everyday of his life up until he was four. The stuff is loaded with iron; in fact almost anything in a box is fortified with iron. Ironically (pun intended) I made myself anemic by getting rid of all the fortified foods in my house, so now I have to make sure I take a good multi W/ Iron, and make sure my guys don't have ANY iron. It's worth it though...