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Hemochromatosis

Update - 1.5 yrs later - strange iron values

01/27/2009

Question:

Just wanted to update you, as suggested. My original question and your answer are included after the update.

Update: 44 yr old female. I`ve been tested for the 3 most commonly tested genetic markers for hemochromatosis (all at once), but all were negative. I know this doesn`t rule out the other varieties, but I`m comfortable that I probably do not have the disease. I`ve had more and more arthritis pain arise since my last posting here, and have recieved the dxs of early-onset osteoarthritis (hip and knee, especially), AND inflammatory-osteoarthritis (aka: erosive-osteroarthritis) in my painful fingers, both dx by one rheumatologist. Was tested more than once for RA and other potential autoimmune players - all negative. C-RP and ESR - all normal. My most recent iron test came back with normal free-iron and tsat values, low ferritin - blood draw was done in the afternoon instead of morning, and without fast. All previous tests have been with 13 hr fast, and high iron and tsat were sometimes found, sometimes not (see some values below in previous post). In general I get totally normal and then abnormal blood tests for my iron and tsat with no clear pattern. I`ll continue to get it tested once/yr. Recently had hormone levels checked - all normal for young woman (they indicate that I am not entering peri-menopause yet). An interesting twist – my father’s 2 sisters, and one of their daughters, have one of the thalassemia minor genetic disorders. I do not. They are genetically related to me through my father’s mother only.

I still have a no-red-meat diet, and eat fish and chicken once or twice/wk. I compensate for iron with breakfast cereal, green vegetables, beans and soy products (incl soy milk).

Because of iron`s role in oxidative stress, I`m still not comfortable with excess iron not bound to proteins. Is there a diurnal variation of iron values that could contribute to my fluctuating values? MOST IMPORTANTLY - Could excess circulating iron be contributing to my joint problems? Is excess free iron in the blood of any concern (can it led to cellular damage in organs or brain?).

(Original Question and Answer:) Question: 42 yo normally-menstruating female, irish/italian, no red meat, very little heme iron at all in diet. No *known* history of HH, but I`m being tested for HFE genes now. Results soon. Have never given blood or had any HH treatments of any kind. Very normal iron indices in 1998 (iron was 88 ug/dL, tsat was 23%), except for TIBC (385 ug/dL) (Quest Diagnositcs, AMBA) In 2003 - High iron (244 ug/dL) and tsat (75%) but low ferritin (24 ng/mL) - TIBC was 325 ug/dL (Quest Diagnositics/AMBA, except for ferritin which was tested at Stanford Hospital) Retested in 2007: iron 199 ug/dL, tsat 53%, TIBC 375 ug/dL, and ferritin 14 ng/dL (Quest Diagnostics/AMBA, except for ferritin which was tested via a blood draw at my dr`s office, I don`t know what lab)

(Original) Questions: If I have such high iron floating around, and not being sequestered into ferritin proteins, is it more likely to cause harm? Why is the ferritin not upregulating? Wouldn`t it be healthier to have a higher ferritin count if the tsat is so high? Then I could drop them all with phlebotomy. Would phlebotomy be contraindicated in light of the low ferritin? Is there a way to test for hemosiderin levels? Are there other storage proteins that I can have checked? If I don`t have HH, what could be causing my weird iron indices? Too many questions, I know ... if you answer a few, I`ll be appreciative.

(Original) Answer: The best way I could summarize the rather confusing-looking tests is that they`re each measuring different parts of iron metabolism. First, there is no useful test of hemosiderin deposits. It wouldn`t have any special clinical considerations associated with it anyway. Other storage proteins wouldn`t be terribly relevant in this situation. The one thing that might be helpful to check is to rule out inflammation as an underlying cause. Checking c-reactive protein or erythrocyte sedimentation rate (ESR) might be helpful in that regard. It is at least possible that the patient could have hereditary hemochromatosis, but still be iron deficient. That would give you both a high iron saturation index as well as a low ferritin. Certainly checking the genetic status would be helpful in this situation. Please feel free to contact us again when the results of the genetic assay are available.

Answer:

In answer to your multiple questions regarding the various iron studies that have been done, what you are really highlighting is the unreliability of serum iron TIBC saturation indexes and the tests themselves:

What are very sensitive and very specific in this situation are the low ferritin levels. Ferritin less than 20 ng/dl is quite consistent with iron deficiency, and I can pretty well guarantee that is making your symptoms worse, possibly including arthralgias.

Certainly fatigue and multiple other symptoms and muscle strength are going to be decreased because of iron deficiency at that level.

Restricted diets in this situation are not helpful - they just continue the symptomology.

For more information:

Go to the Hemochromatosis health topic, where you can:

Response by:

Mark   Wurster, MD Mark Wurster, MD
Former Clinical Assistant Professor of Internal Medicine
College of Medicine
The Ohio State University