Exjade doesn't seem to be working

Sorry. Just noticed spell check turned Exjade into exhale

I think I have them all changed now.

With Andy around, even the spell check is not a problem.

Lori,

There is a Ferriscan for the heart, but I don't know how wide its use is yet. A T2* test is usually used to measure cardiac iron load. Cardiac iron is not at all predictable by LIC, so it should be done to assess the iron load in the heart.

Thanks Andy. Thanks also for the Ferriscan chart. Her numbers have been in the way too high range since her first ferriscan. I can't believe her doctor's didn't treat her more aggressively. I have sent her test results to Children's Memorial in Chicago and they need quite a bit of info she 's never been tested for (vitamin D, C, magnesium, phosphorus, zinc, FSH, Free T4 and PTH). It just keeps looking more and more like our doctor is clueless.

I told the staff at the hospital and that I shouldn't have to go to the Internet (aka Andy) to learn about this and I CAN NOT know more than her doctor!  We are hoping that  the damage isn't too sever yet and given that she is only 6 there is still time to reverse any damage done.  Though it's been really high at least 4 of those 6 years.

Thanks again, Lori

I am so confused. She came back negative for the C282Y and H63D hemachromatosis tests. The third one the local doctor ordered isn't even available in the US. Ay other suggestions as to what could be causing her iron to be so high and so stubborn?

LoriM

Lori,

By any chance, do you know the units that were used when the Ferriscan gave results of 20,000 and 35,500? I'm looking for something like ug/mg or mg/gm. With a ferritin under 3500, I just would not expect to see numbers that translate to 20-35 mg/gm for such a young child.

I read your old posts and the measurement was in mg/gm and the levels were already over 30 in 2009. I  remembered something I had recently read about hemochromatosis in Chinese. I can't say for certain that this is the explanation, but it must be considered a strong possibility of why your daughter's iron levels are so high. http://www.clinchem.org/content/47/7/1147.full

Non-HFE Hemochromatosis

Genetic heterogeneity of hemochromatosis is shown by multiple mutations within the HFE gene as well as by other genes, particularly in specific populations. In some populations, hemochromatosis is not associated with the C282Y mutation. In particular, Chinese hemochromatosis patients do not have the C282Y mutation (29), although it is not known whether other mutations in the HFE gene or mutations in a different gene are responsible. Because of interactions with HFE, β2-microglobulin (β2m) and the Tf receptor (TfR) are candidates for additional hemochromatosis genes; however, mutations have not been demonstrated in either gene (30)(31).

Combined with beta thalassemia, this may explain the iron load that should not be there if it is beta thal alone. The fact that things have only worsened over the past few years should be enough to warrant more investigation, and most importantly, devising a chelation program that works. I do believe that Chicago now has capability to do both Ferriscan and Ferriscan Cardiac T2*. With constantly increasing iron levels over several years and an extremely high LIC, it would make sense to also check the heart.

Annual evaluations at a Center of Excellence, like Chicago Memorial will be essential. I feel that is true for all transfusing patients, but in this unusual case, it seems absolutely essential.

Thanks Andy. I will pass this info on and also ask about it in Chicago. I realize her levels are through the roof and it only makes sense that there is an underlying condition that is causing it.  I am hoping we find it soon. You are invaluable, Andy!

Lori M

I have done some research and while it is rare for a child so young to show the iron overload she has shown I am convinced she either has hereditary hemochromatosis or juvenile hemochromatosis.  The treatment for these is blood letting, which isn't done on patients with bone marrow issues (like Beta Thalassemia Major). I have printed off several articles that address the issue of Asian populations not having the standard HH mutations. Though I am not sure that a specific mutant has been identified (I will have to read more carefully with highlighter in hand).  Odd:  juvenile hemochromatosis usually onsets before the age of 30...her numbers were high at 3. It seems reasonable and very possible she has at least one form of HH. It is listed as "rare but when it does occur the cinsequences are more severe". But I think the identifying the problem is the first step in getting her some treatment.  Thanks for pointing me on the right direction, Andy.

Lori M

Lori,

When she had the Ferriscan in 2009, someone should have been alarmed enough to further investigate. She was either 3 or 4 at that time and it should have been evident to any doctor that things did not add up. At that age, she could not possibly have had enough transfusions to result in an LIC of over 30. A second reason for her high iron load should have immediately been sought by the doctors. At this point, please remain assertive and don't rest until you have an answer and a treatment plan that can address the iron load. The prospect of a BMT may again be raised and should be thoroughly examined. In that regard, I have already made an inquiry about the feasibility of BMT when the iron load is this high. I will let you know when I receive an answer. I feel that all possibilities should be considered.

Thanks Andy. I plan on doing just that!

PS thanks ... Those were my thought exactly and I can't get anyone to take me seriously. It is frustrating.