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Dr. Andrew Rynne
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Dr. Andrew Rynne

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Hemochromatosis Test Shows H63D Mutation. Iron Level Is 190. Suggestions?

I've been tested for hemochromatosis. The result showed that I carry the H63D mutation. My previous blood work showed my iron, serum level of 190, % saturation was 59 & my ferritin was at 123. My PHP suggests that that I wait until July & have my iron levels checked again to see if they are still rising. What do you advise?

Thank you, Bev Witt
Mon, 22 Apr 2013
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Pathologist and Microbiologist,  's  Response
Hello and welcome to HCM,

Hemochromatosis is a hereditary (autosomal recessive) condition caused by mutation of gene HFE. The most common mutation is that of HFE gene.
The mutation that you have mentioned is not the common one.
However, the serum iron profile suggests an iron overload charateritic of hemochromatosis.

Since, the mutation is not a characteristic of the disease, a repeat iron profile is mandatory.
Besides hemochromatosis is also caused by a number of secondary causes called secondary hemochromatosis e.g. excessive iron intake, hemolysis, multiple blood transfusions, excessive dietary iron, etc.
These causes have to be ruled out.

If the iron profile still remains the samebafter a couple of months and all other causes are not present, , management for primary hemochromatosis is needed.
It involves phlebotomy and chelation.
Chelation is removal of iron from the body.
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Hemochromatosis Test Shows H63D Mutation. Iron Level Is 190. Suggestions?

Hello and welcome to HCM, Hemochromatosis is a hereditary (autosomal recessive) condition caused by mutation of gene HFE. The most common mutation is that of HFE gene. The mutation that you have mentioned is not the common one. However, the serum iron profile suggests an iron overload charateritic of hemochromatosis. Since, the mutation is not a characteristic of the disease, a repeat iron profile is mandatory. Besides hemochromatosis is also caused by a number of secondary causes called secondary hemochromatosis e.g. excessive iron intake, hemolysis, multiple blood transfusions, excessive dietary iron, etc. These causes have to be ruled out. If the iron profile still remains the samebafter a couple of months and all other causes are not present, , management for primary hemochromatosis is needed. It involves phlebotomy and chelation. Chelation is removal of iron from the body.