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Q. Am I a carrier or patient of hereditary hemochromatosis?

Answered by
Dr. Singh Smrita
and medically reviewed by iCliniq medical review team.
This is a premium question & answer published on Jan 21, 2018

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 test showed:

  1. Iron, Serum 286 ug/dl range 35-169 (ALERT LEVEL)
  2. TIBC 435 ug/dl range 250-450
  3. UIBC 149 ug/dl range 111-343
  4. Iron Saturation at 66%
  • On the Transferrin Saturation
  1. Iron 298 ug/dl range 61-157
  2. Transferrin Saturation 56% range 15-55
  3. Transferrin 377 mg/dl range 200-370
  4. Ferritin, Serum 36 ng/ml

I had given blood about 10 days prior to the test being taken. I am looking for some guidance on whether these results should be of concern or not.

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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 indicative of homozygosity for the HFE gene. Moreover, genetic testing is confirmatory. Fasting transferrin saturation values in excess of 45 % for males or 35 % in premenopausal women (i.e. 300 ng/L in males and 200 ng/L in females) are recognized as a threshold for further evaluation of hemochromatosis. You have already been diagnosed as heterozygous for hereditary hemochromatosis, and these values are to be expected.

Since your serum ferritin levels are towards the lower end of the normal range, you do not need to undergo phlebotomy. Serum ferritin in excess of 1000 nanograms per milliliter of blood is almost always attributable to hemochromatosis.

The increase in RBC count and hemoglobin is a direct result of the testosterone therapy you are receiving. I would say that currently you need not worry but you need to keep monitoring your serum ferritin level and transferrin saturation in order to prevent the development of complications and receive adequate treatment when your iron stores reach levels that can cause them. Thank you.

For more information consult a hematologist online --> https://www.icliniq.com/ask-a-doctor-online/hematologist


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