A brief overview of the DIAGNOSIS, TREATMENT, DIET & misc. recommendations follow:
DIAGNOSIS: Clinical testing includes the 4 tests mentioned above. A TS level >45% & a ferritin >150 should be considered suspicious & followed up on with further testing. Genetic testing should include both the CYS282 & the HIS63 mutations. Those who are homozygous for the CYS mutation are usually at greater risk for loading iron. HOWEVER, it is important to note that compound heterozygotes AND carriers CAN & DO overload iron. Although genetic testing is an important tool to identify those who "may" be at risk for loading iron, the bottom line is to treat the patient & their labs, not their genes! Clinical testing should always be done, irregardless of the genetic testing. The liver biopsy, once considered the gold standard for diagnosis of HH, is no longer necessary. However, for anyone with a ferritin >1000, it is beneficial to identify if cirrhosis is present & the stage. The results of the liver biopsy does not change the treatment plan, but those with cirrhosis present are at a greater risk for liver cancer & should be monitored closely. Clinical & genetic testing should be enough for diagnosis. However, if the diagnosis is questionable, "quantitative phlebtotomies" may be done to determine that excess iron is present. This consists of weekly phlebs for a 6 wk. period. If the hgb. rebounds without difficulty during this time, then one can assume that excess iron is available. [exceptions to this rule may be found in those who have a seperate health problem which may prevent them from adequately rebuilding their hgb. levels.]
NOTE: Symptoms do NOT have to be present for treatment to be started! The best outcome is achieved in those where the diagnosis & treatment occurs before organs and/or joints have been affected by the excess iron! Once diagnosis is made, a complete physical should be done with particular attention to the liver, pancreas, thyroid & heart. Any abnormalities should be monitored & treated as needed. After the excess iron is removed, elevated liver enzymes often return to normal, cardiac function may improve & diabetes may be better controlled. Thyroid damage is common with HH & usually permanent.
TREATMENT: The goal should be to initiate phlebotomies [removal of up to 1 pint of blood] as soon as excess iron is identified, & to remove the iron as quickly as the patient can tolerate it. It is imperative that doctors and patients realize that treatment must be highly individualized. There is not a "one size fits all" rule for treatment! Factors to consider during treatment should be other existing health conditions, as well as the size, tolerance & lifestyle of each individual. While some can tolerate twice weekly phlebotomies, others may need to space theirs out to once every 10 days. Smaller persons may need less than a pint removed. A hemoglobin level should always be done prior to each phleb. to insure that levels are adequate for phlebbing. The general guidelines call for weekly phlebs. until the hgb. level drops to a predetermined level [usually 11 or 12] & it does not rebound for a 2 to 3 wk. period. This usually indicates that iron stores have been depleted. However, there is not one single test that will tell you when you are ready for maintenance phlebotomies. Consideration should be given to the TS, TIBC, FERRITIN & MCV levels as well. Generally speaking, the Hgb., TS, Ferritin & MCV will be decreased & the TIBC will be increased, when iron is depleted. There is no reason to take anyone into overt iron deficiency, or to maintain an iron deficient state, but care should be taken to see that they are iron depleted prior to establishing a maintenance schedule. Maintenance varies & should be established, based on a pattern which will keep the ferritin <50 & the TS <35%.
NOTE: During the initial treatment, please realize that lifestyle changes may need to be made to accommodate the stress which is placed on the body by the repeated phlebotomies. Care should be taken to be well hydrated & to avoid strenuous activities the day of the phlebotomy . Some patients are unable to continue their "normal" work routine or activities during this time. This is NOT the same thing as a simple blood donation at the blood bank, as some family members & friends like to compare it to. Depending on the amount of iron stored, it could take months, even a year or longer, of phlebbing. Unlike other disease treatments, such as chemotherapy, when hair loss & nausea may be noticeable side effects, the weekly phlebotomies may not cause any outward symptoms, which friends & family can relate to. Yet it is a complex process that is occurring as the iron is removed & your body adjusts to the lower blood volume & decreased hgb. levels. Allow your body to get adequate rest & adjust routines as needed!
Another consideration during treatment is that medications may need adjusted as iron is removed & blood volume depleted, especially blood pressure & diabetic medications.
DIETARY CONSIDERATIONS:While it is not necessary to implement severe dietary restrictions, moderation should be exercised. A balanced diet is always important with proper consideration to the iron content. Basic considerations should include: NO iron supplements, limiting organ meats, as well as red meats, & watch the intake of iron enriched foods. One of the worst for us in the U.S.A. are cereals, which can have 100% of the RDA for iron in one bowl! Iron is added to everything in this country, our flour, breads, pastas, even some canned foods in the form of ferrous sulfate. [for coloring] It is impossible to avoid it completely, but we can choose those products with less iron content. Another thing to avoid are Vit C supplements, alcoholic beverages & smoking, since all can increase iron absorption! It is also important to NOT eat raw or undercooked seafood. There is a bacteria in it that can kill someone or make them deathly sick, if they have HH.
Since Vit C has been proven to increase iron absorption,
it should be limited to no more than 300mg per day & should be taken at least 2 hrs.
away from meals.[if you MUST take it!] Tannins in foods such as coffee & tea
have been proven to inhibit iron absorption, so a cup of tea with a meal is
During the initial phlebotomy regiment, it is recommended to take B-Complex, Vit E & Folic Acid supplements, which assist the body in rebuilding of the hgb. level, as well as providing an antioxidant to help in the release of the iron.
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