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Topics:
Pediatric Hematology/Oncology • Medical Oncology • Hematology • Pediatric Hematology • Iron Homeostasis • Hereditary Hemochromatosis
What parameters would you use to monitor and interpret iron levels in a hemochromatosis patient where ferritin is unreliable due to underlying chronic inflammation?
How would your recommendation change if the patient has H63 homozygous mutation?
Answer from: at Community Practice
The biggest question in these situations is whether the patient truly has iron overload vs. just high ferritin. If iron sat is not elevated, true iron overload is very unlikely. If both ferritin and iron sat are elevated, but they don't have a homozygous C282Y genotype, I make sure that the patient ...
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Answer from: at Community Practice
H63D homozygosity is not usually associated with iron overload so a high ferritin in that circumstance is likely from inflammation or liver injury.