Hemochromatosis

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.

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My iron saturation percentage is higher than normal. Does it mean I have hemochromatosis?

Query: Hi doctor, I am a 52-year-old male (5 foot 7 inches, 157 pounds) with no symptoms. I had some routine annual lab tests performed three months back, I had an elevated Ferritin level of 325.9 (normal is 40 to 250 ng/mL). So I had more comprehensive lab tests done last week. Please see attached lab re...  Read Full »


Dr. Mian Shah Yousaf

Answer: Hello, Welcome to icliniq.com. I reviewed all your tests (attachments removed to protect the patient's identity). Your serum transferrin saturation suggests hemochromatosis, but it is an initial screening test, and your ferritin is not that high. Your liver enzymes are also normal, so there is nothi...  Read Full »

Do I have ferroportin disease if my ferritin level and transferrin saturation are high?

Query: Hello doctor, I am a 29-year-old male, and I fear that I might have ferroportin disease. I persistently have high ferritin levels, and my transferrin saturation is also mildly above the normal range. I have also looked at my genotyping on chromosome 2 and noticed a single nucleotide mutation for m...  Read Full »


Dr. Ajeet Kumar Lohana

Answer: Hello, Welcome to icliniq.com. Having H63D (histidine at amino acid position 63) carrier does not indicate a diagnosis of hemochromatosis. Similarly, you have one of the gene alleles for ferroportin disease. However, the transferrin saturation should be low in ferroportin disease. On the...  Read Full »

Will hemochromatosis cause grayish discoloration of the face?

Query: Hi doctor,I have grayish skin on the face, but my hemoglobin is normal. I have leucocytes at 11.1, ferritin 402, and C-reactive protein 13. I am on Zoloft Risperdal and Remeron. Kindly give your opinion.  Read Full »


Dr. Muhammad Zubayer Alam

Answer: Hi, Welcome to icliniq.com. I can understand your concern. According to your statement, you have been suffering from grayish discoloration of the skin in the face. Again, according to your investment reports, your leucocytes level and CRP (C-reactive protein) level are above normal, and your fe...  Read Full »

How to reduce the levels of iron and ferritin?

Query: Hello doctor, I am a 61 year old male. For many years, I was treated for hemochromatosis. Then, about 12 years ago, I had a genetic test. The results prompted the hematologist to abruptly stop the recurring phlebotomies. I do not recall the test result and apparently, it cannot be located. But, I r...  Read Full »


Dr. Santosh Badaku Desai

Answer: Hi, Welcome to icliniq.com. I understand your concern. Your iron saturation and serum ferritin is high and these are suggestive of iron overload or hereditary hemochromatosis (HH). You talked about a test that was done and then the hematologist stopped the phlebotomy. I think, probably he must have ...  Read Full »

Please suggest ways to reduce high iron levels.

Query: Hi doctor, My mother has been transfused with at least 11 to 12 units of blood during a period of two months. This was done on a false diagnosis of iron deficiency anemia. It was a false diagnosis because transferrin receptor was never used to come to this diagnosis. She has had elevated CRP for a ...  Read Full »


Dr. Prakash H. Muddegowda

Answer: 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. All the symptoms and signs point towards hemochromatosis, possibly due to iron overloading secondary to m...  Read Full »

What should I do to lower my ferritin levels?

Query: Hello doctor, My ferritin levels are very high. It is 571. I am always feeling tired. Can you prescribe some medicines?  Read Full »


Dr. Muhammad Zubayer Alam

Answer: 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. Your cholesterol and triglyceride levels are also high. Common causes of high ferritin levels are obesity, fatty liver, infl...  Read Full »

Will increased iron saturation cause damage of internal organs?

Query: Hello doctor, I am 20 years old. Today I got lab results that show my iron saturation is 73% and my iron serum is 278 ug/dl. I am 6 feet tall and have lost weight down to 127 pounds. I have joint pain, headaches, digestive issues, low appetite, and depression. My mom got me an appointment with a h...  Read Full »


Dr. Parth R Goswami

Answer: Hi, Welcome to icliniq.com. Your serum iron level is high. So we have to rule out iron over storage means hemochromatosis like picture. For that, serum ferritin and transferrin saturation have to be done. Your serum ferritin level is normal, So iron storage seems less likely. However, investigate...  Read Full »

What is the cause of persistent increase in liver enzymes?

Query: Hi doctor, I am 23 years old. It has been more than a year my liver function test result remains high. I have been tested for hepatitis A, B, C, E, and autoimmune hepatitis, but the result all came out negative. My doctor told to take blood test regularly. But, it has been almost a year now, the res...  Read Full »


Dr. Ajeet Kumar Lohana

Answer: Hello, Welcome to icliniq.com. I can imagine that you must be very concerned about your persistent elevation of the liver enzymes. As you already have viral etiologies excluded this is time to look for other things which could lead to persistent elevation of the liver enzymes. Notably the Wilson, ...  Read Full »

Kindly help me interpret my liver USG report.

Query: Hello doctor, Four months before, I was diagnosed with fatty liver, slightly elevated fasting sugar and the level of total cholesterol. My current medications are tablet Viboliv 500 daily two times in a restricted diet and Nexpro RD. I had consumed spicy foods rarely. In the last four months, I l...  Read Full »


Dr. Sadaf Mustafa

Answer: Hello, Welcome to icliniq.com. The fatty liver disease is also known as NASH (nonalcoholic steatohepatitis), which may progress to NAFLD that is nonalcoholic fatty liver disease. The real issue here is to know if you are developing fibrosis or cirrhosis from it. And that is whether you are compens...  Read Full »

Is there any association between polycythemia and hemochromatosis?

Query: Hello doctor, Is there an association between polycythemia and hemochromatosis? I have a high Hb of 18 and hematocrit of 51 %. I am a student and found to have incidental polycythemia. I tested for all myeloproliferative neoplasm and bone marrow biopsy is negative for MPN. However, I was tested to ...  Read Full »


Dr. Parth R Goswami

Answer: Hello, Welcome to icliniq.com. Usually, in hemochromatosis, storage iron is increased, that is serum ferritin. So you can investigate with serum ferritin as well. If you have myeloproliferative neoplasm like polycythemia, then usually it can be clear from bone marrow study and JAK2 mutation. It co...  Read Full »

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