Excessive body iron causes its build-up in various organs leading to various health issues like heart problems, liver disease, diabetes, arthritis, reproductive organ damage, skin changes, endocrinal abnormalities, etc. This iron overload is known as hemochromatosis. Primary hemochromatosis is due to a hereditary transfer of faulty genes from parents to children. Secondary hemochromatosis occurs in sickle cell anemia, thalassemia, chronic liver diseases, blood transfusions, kidney dialysis, and excessive iron supplementation. Joint pain, fatigue, weakness, abdominal pain, and weight loss are its symptoms. Therapeutic phlebotomy, iron chelation, and dietary restrictions are the ways to treat hemochromatosis.
Hello, Welcome to icliniq.com. Having H63D (histidine at amino acid position 63) carrier does not indicate a diagnosis of hemochromatosis.
Hi, Welcome to icliniq.com. I can understand your concern. According to your statement, you have recently done serum ferritin, and your level is 571.30ng, which is very high.
Hello, Welcome to icliniq.com. I reviewed all your tests (attachments removed to protect the patient's identity).
Hello, Welcome to icliniq.com. Elevated ferritin could be from congenital hemochromatosis, but the HFE gene mutation is negative, so it is excluded (attachment removed to protect patient identity).
Hello, Welcome to icliniq.com. I have read your query. Fatty liver disease is also known as NASH (nonalcoholic steatohepatitis), which may progress to NAFLD, which is nonalcoholic fatty liver disease.
Hi, Welcome to icliniq.com. I can understand your concern. According to your statement, you have been suffering from grayish discoloration of the skin on the face.
Hello, Welcome to icliniq.com. I have gone through your blood test results (attachment removed to protect patient identity).
Hello, Welcome to icliniq.com. I understand your concern. Usually, in hemochromatosis, stored iron is increased, that is, serum ferritin. So you can investigate with serum ferritin as well.
Hi, Welcome to icliniq.com. Based on your query, my opinion is as follows, Normally in hemochromatosis (iron deposition disease), serum transferrin, iron, and ferritin levels will be usually high.
Hi, Welcome to icliniq.com. Your serum iron level is high. So we have to rule out iron overload, meaning hemochromatosis, like the picture.
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