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A member asked:
How is a diagnosis for iron overload/hemochromatosis confirmed?
6 doctors weighed in across 2 answers
Labs and Bx: Labs that include ferritin and transferrin saturation. All patients being evaluated for hhc should have c282y and h63d mutation analysis. This may help in determine risk for hhc but is not always diagnostic by itself. Lastly a liver biopsy with a iron index or MRI may help to confirm suspected cases.
Answered 6/5/2019
6.1k views
Liver biopsy: Although blood testing (measurement of iron studies and hfe assay) combined with family history can be very suggestive, a liver biopsy with iron staining clinches a diagnosis of hemochromatosis and distinguishes it from other iron overload diseases.
Answered 6/26/2020
5.5k views
Related Questions
A member asked:
How can I know if I have iron overload/hemochromatosis? What tests should be performed? I hear that there is a DNA genetic test kit for hemochromatosis, is that true?
8 doctors weighed in across 3 answers
A member asked:
I have been diagnosed with hereditary hemochromatosis. I have had 8 phlebotomies and my iron level is still raising. Why?
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A member asked:
Iron serum was 167 (high), UBIC was 109 (low), & Iron Saturation was 61% (high)... Is this hemochromatosis?
A doctor has provided 1 answer
A member asked:
I have hemochromatosis but my iron levels are Ferritin 8 Iron 7 Transferrin 2.1 Transferrin Sat 13?
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A member asked:
Every time my son donates blood they tell him his iron is too high . This time it was 51. My uncle has hemochromatosis , should I be concerned .
10 doctors weighed in across 2 answers
People also searched for:
Isn't the diagnosis for hemochromatosis based on irish hemochromatosis? Other races like far east have different gene for iron overload
What iron levels are considered "suspicious" for iron overload/hemochromatosis?
Does hemochromatosis ever cause compensatory hyperventilation? Does this signal that heart damage from iron overload is already done?
I'm 25&Male, Rbc=5.9(H),hb=15.5,mch=26.3(L) Mpv=13.7(H),hct =47%, iron=80,Tibc=260,ferritin=250.4(ref:20-250),have i a iron overload?(hemochromatosis)
If I have the double gene mutation (homozygous) for hemochromatosis but am not clinically iron overloaded (have high iron levels on lab results) at this time, can I develop iron overload later, such as in 2, 5, or 10 or more years later?
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