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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How is polycythemia different from 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 the bone marrow biopsy is negative for MPN. However, I was tested t...  Read Full »


Dr. Goswami Parth Rajendragiri

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 ...  Read Full »

I have hereditary hemochromatosis, and I am worried about iron damaging my heart. Is my condition been mismanaged?

Query: Hello doctor, I am a 49-year-old woman. I was diagnosed with hereditary hemochromatosis a decade ago. I have had TSAT in the 80 % range since then, and this has been dismissed as irrelevant by my doctor and hospital. Their advice was to wait till I got to Ferritin 400 micrograms per liter and start ...  Read Full »


Dr. Penchilaprasad Kandikattu

Answer: Hello, Welcome to icliniq.com. I have read your query and understand your concern. Yes, hemochromatosis may cause conductive cardiac problems. But as such present heart rate and blood pressure in the report (attachment removed to protect the patient's identity) you provided are normal. Yes, sinus ...  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. Desai Santosh Badaku

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 mus...  Read Full »

How to reduce my serum ferritin level?

Query: Hi doctor, My ferritin level is 1500, and I want to bring it down to 150. How much will one DFO IV session or each Exjade pill reduce the ferritin level on an average? I am a healthy individual, and I do not have HIV, HCC, or any other disease.  Read Full »


Dr. Goswami Parth Rajendragiri

Answer: Hi, Welcome to icliniq.com. Your serum ferritin is high, so the cause should be found out first. It can be hemochromatosis, in which excess iron is stored in the bone marrow. Deferoxamine is used for increased iron storage in thalassemia patient. For high ferritin, phlebotomy is also another mo...  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. M

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 ...  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

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 »

Am I a carrier or patient of hereditary hemochromatosis?

Query: Hello doctor, I have received a blood test back that I am confused about. I have previously been diagnosed with hereditary hemochromatosis but a new physician recently did the genetic test and indicated that I only had one of the genes present and thus was a carrier and not a patient. The blood tes...  Read Full »


Dr. Singh Smrita

Answer: Hello, Welcome to icliniq.com. I have gone through your blood test results (attachment removed to protect patient identity). Your blood picture shows that the iron which is absorbed is not being utilized properly. Your transferrin saturation levels 56 % is high but not more than 62 %, which is in...  Read Full »

What can be done for elevated ferritin levels in a 50-year-old?

Query: Hello doctor,I am a 50-year-old female who has had an elevated ferritin level for many years now. My last ferritin level was 342, 20 days back. My ferritin level has been as high as 390. My TIBC, UIBC, iron, and iron saturation have always been within normal range. My glucose has always ranged from ...  Read Full »


Dr. Goswami Parth Rajendragiri

Answer: Hello, Welcome to icliniq.com. Elevated ferritin could be from congenital hemochromatosis but HFE gene mutation is negative, so it is excluded (attachment removed to protect patient identity). Secondly, a hemolytic condition also can be a possibility but serum LDH (lactic acid dehydrogenase), reti...  Read Full »

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

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 »

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