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Fatigue, dry heaves, done phlebotomy. Can heterozygous hemachromatosis gene cause symptoms?

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Hello- for the last 6 months, I have experienced gradual waves of fatigue. It startedout as once a month and gradually increased in frequency. About 30 days ago, the symptoms increased to include an abdominal discomfort with a slight degree of pain under the right rib cage and "spells" of dry heaving. Never vomiting, but 2 or 3 times a day experience a butterfly feeling and then dry heave. I quickly reached out to a physician who identified an irregular heart beat, elevated BP and a high red-blood cell count. Believe the Hemoglobin was 17.0 (I am a 40-year old male). I mentioned to him that my twin brother was just diagnosed with hemachromatosis (which took 2-3 years to identify) so they ran a ferretin test and it returned 650+. I went to the referred a hematologist. Though the dry heaves continued, he initially ran a blood test and noticed a couple marginally increased liver enzymes and a lower platlete count. I was told to come back in 2 weeks. I returned in two weeks. He confirmed that I had the heterzygous hemachromatosis gene, but when I asked about the saturation level, he said they didn't run it. He was totally convinced- to the point of dismissing it totally- that hemachromatosis could be causing any of my problems. He informed me that he does not treat elevated feretin levels until they reach 1000. I requested and he eventually agreed to 2 phlebotomies. I have done one phlebotomy last week and noticed an uptick in energy, though the general fatigue and dry heaves persist. I have another scheduled this week as well as a liver catscan. My questions- though rare- can heterozygous hemachromatosis still cause HH symptoms? My twin brother struggled with this debilitating illness for 2 or 3 years (same symptoms I exhibit) before they diagnosed the problem. He is back to 100% now after multiple phlebotomies. Am I silly to believe that the genetic similarities have some weight in treatment (my dad passed away from liver cancer)? I have another meeting the hematologist next Monday and I believe he will shy away from additional phlebotomies as he still doubts that is the problem. Are there any possible "issues" with bringing feretin levels back to 300 or less in a safe manner that I can request he help me oversee? Can the excess iron (that's proven with feretin levels) be causing some of the GI issues I'm experiencing? What other diseases can cause elevated feretin levels? I am considering changing doctors as I feel he might not be as well versed in hemachromatosis (no saturation test and no treatment until 1000), do you think that is wise? My general health has always been good before this. Thanks.
Posted Sat, 1 Sep 2012 in Blood Disorders
 
 
Answered by Dr. Ioan Dorian OANA 13 hours later
Hello,

Thanks for your query.

Patients with hemochromatosis usually carry two mutations and they are known as homozygotes, but there are cases with one mutation, known as heterozygotes or carriers, who may have abnormal serum iron and ferritin tests, and occasionally develop the disease.

I would not recommend you to follow a treatment just because of the genetic similarities with your twin brother and because he is back to 100% now. Each patient is different and should be evaluated carefully by a hematologist, in this case.

The excess iron can cause some of the GI issues you are experiencing.

Ferritin will be elevated in the following situations:
- any disorder that includes increased iron levels;
- if any organs that store blood are damaged;
- is also an acute-phase reactant, its levels can increase during injury, infection or inflammation.

I do not understand why your hematologist will shy away from additional phlebotomies or why he does not treat elevated ferritin levels until they reach 1000. In normal circumstances (you said your general health has always been good before this), there should be no "issues" with bringing feretin levels back to 300 or less in a safe manner. I think it is wise in this case to look for another hematologist, more experienced in hematochromatosis.

If you have any more queries, feel free to ask.

Regards
Dr. Dorian Oana MD, PhD
Above answer was peer-reviewed by
 
Follow-up: Fatigue, dry heaves, done phlebotomy. Can heterozygous hemachromatosis gene cause symptoms? 1 hour later
Thank you.

Can you expand on why or how the excess iron is causing the dry heaves and do you have any suggestions to minimize the symptoms. I am slightly overweight- 200#'s, but have lost nearly 5 #'s since this started. There is never vomit- even if happening right after eating. But certain foods do seem to trigger the indigestion that brings on the dry heaves. So I've been a cautious eater.

What are the other common disorders or diseases that cause elevated ferritin levels?

I am shocked at how quickly te onset of symptoms happened. Is this a common to hemachromatosis?
XXXXXXX
 
 
Answered by Dr. Ioan Dorian OANA 5 hours later
Hello,

Thanks for your reply.

There are no enough data in the literature to describe why or how the excess iron is causing the dry heaves; the excess iron should have a similar effect with food poisoning, alcohol intoxication or drug reactions. Dramamine is an over-the-counter drug that can be used to minimize the symptoms. Other treatments include correction of fluid and electrolyte balance, nutritional support and medications like phenothiazines, 5-HT3 antagonist, dopamine receptor antagonists, and anticholinergics. You should also have regular meals with adequate carbohydrates to prevent being hypoglycemic, eat healthfully, free yourself from stress and anxiety by engaging in relaxing activities.

The other common disorders or diseases that cause elevated ferritin levels are: excessive iron intake; chronic transfusion therapy; viral hepatitis; alcoholic liver disease; megaloblastic anemia; Hodgkin's lymphoma; hemolytic anemia; obesity; inflammation; daily alcohol consumption etc.

Although hereditary hemochromatosis is present at birth, most people don't experience signs and symptoms until later in life (usually between the ages of 30 and 50 in men) and can vary considerably from person to person, regarding how quickly the onset of symptoms happen. So, I cannot say that it is common, but this is not uncommon either.

If you have any more queries, feel free to ask.

Regards
Dr. Dorian Oana MD, PhD
Above answer was peer-reviewed by
 
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