How is a diagnosis for iron overload/hemochromatosis confirmed?
Confirmation of a diagnosis is based on a combination of several factors; these will vary from doctor to doctor on which ones are used: a.) Elevation of iron tests such as transferrin saturation and serum ferritin b.) Elevation of liver enzymes (abnormal liver function tests) c.) Symptoms (diabetes/heart disease/arthritis/impotence/infertility/bronzed skin, liver disease) d.) Liver biopsy showing hepatic iron index (HII) and such liver diseases as cirrhosis/cancer e.) DNA genetic test (results are available between 1 to 14 days depending on the lab used) f.) CT/MRI/Ultrasound of the liver showing deposition of iron in the liver or hepatoma(s) (liver tumors). g.) Quantitative phlebotomy (a trial series of six weekly phelobotomies to confirm diagnosis; if the hematocrit remains 35% or greater immediately prior to each phlebotomy. Six weeks of weekly bloodletting is another way to confirm iron overload, hemochromatosis) h.) Alpha Fetoprotein bloodwork ruling out liver cancer due to HH. i.
