Am I a carrier or patient of hereditary hemochromatosis?

Question

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:

Serum iron 286 ug/dL range 35 to 169 ug/dl (alert level).
TIBC (total iron-binding capacity) 435 ug/dL range 250 to 450 ug/dL.
UIBC (unsaturated iron-binding capacity) 149 ug/dL range 111 to 343 ug/dL.
Iron saturation at 66 %.

On the transferrin saturation,

Iron 298 ug/dL range from 61 to 157 ug/dL.
Transferrin saturation of 56 % ranges from 15 to 55 %.
Transferrin 377 mg/dL range from 200 to 370 mg/dL.
Serum ferritin 36 ng/mL.

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

Answer 1

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 that is absorbed is not being utilized properly. Your transferrin saturation level of 56% is high but not more than 62%, which is indicative of homozygosity for the HFE (homeostatic iron regulator) gene. Moreover, genetic testing is confirmatory.

Fasting transferrin saturation values in excess of 45% for males or 35% for 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 (red blood cell) 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.