I recently had blood work done because of fatigue, joint pain, heart flutters and discoloration of my skin. tests results showed elevated iron and liver enzymes. Did an ultrasound and have fatty liver. Did the DNA for hemochromatosis and it came back I was only a carrier. I have an appointment with a GI for a live biopsy. Is it possible for a carrier to have hemochromatosis?
Hi thanks for contacting Chat Doctor. Noted you have fatty liver disease... Your DNA testing is positive, and you have skin discoloration and joint pain like symptoms ... So yes chances of hemochromatosis is high...PCR or FISH testing done for detecting HE gene mutation . That is present in congenital hemochromatosis... Here liver biopsy will be helpful to confirm hemochromatosis. In blood examination serum ferritin will be high... Acquired causes for hemochromatosis also has to be ruled out like hemolytic anemia.Meanwhile, take low fat diet with more fruit to rest liver. Avoid alcohol if habit of it. Use less oil in cooking... After confirmation of hemochromatosis therapeutic phlebotomy or desferrioximine like Chat Doctor. Hope your concern solved. Take care.