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Would you recommend a phlebotomy for a patient with a high ferritin level and H63D gene mutation?

January 15, 2025

January 2025

We asked, and you answered! Here are the responses from this month’s “You Make the Call” question on considerations for phlebotomy in a patient with high ferritin who is homozygous for the HFE H63D gene mutation.


Disclaimer: ASH does not recommend or endorse any specific tests, physicians, products, procedures, or opinions, and disclaims any representation, warranty, or guaranty as to the same. Reliance on any information provided in this article is solely at your own risk.


I would favor phlebotomy to lower the ferritin level. The rationale for intervention is that the risks from therapeutic phlebotomy are very low, particularly if close attention is paid to fluid balance during the procedure and if the potential for serious long-term organ toxicity from untreated iron overload is present.

Jonathan S. Harrison, MD
Teaneck, NJ

In the absence of a contraindication, I would recommend regular whole blood donation.

John Carwile, MD
Montgomery, TX

Patients with elevated hepatic iron concentration (HIC) and serum ferritin greater than 1,000 μg/L should proceed to therapeutic phlebotomy. If a liver biopsy revealed elevated HIC, I would start phlebotomy with a target of reducing the serum ferritin to less than 100 µg/L.

Antonis Tsamaloukas, MD
Berlin, Germany

Before starting phlebotomy, I would determine, via imaging, the degree of iron accumulation per gram of liver tissue.

Francisco Cuèllar Ambrosi, MD
Medellin, Colombia

Yes, I would recommend phlebotomy for this patient.

Francis Forte, MD
Tenafly, NJ

I would ask for serum iron, transferrin, and transferrin saturation before making a decision on performing phlebotomy.

Carlo Finelli, MD
Bologna, Italy

If MRI did not show iron overload and ECHO cardiogram does not show cardiac changes, then I would not recommend phlebotomy for this patient.

Gordan Srkalović, MD, PhD
Lansing, MI

I would surely do phlebotomy. Iron metabolism is a multigenic process, and a high iron diet, in combination with certain polymorphisms, can lead to iron excess. Even if the patient changes his eating habits, he won’t be able to get rid of that iron without phlebotomy. Moreover, he could help others by giving to the blood bank.

Pierre-Simon Rohrlich, MD, PhD
Nice, France

I would not recommend phlebotomy now but would follow up since there may be other markers that can be used in the future to indicate which patients have a risk of progression to cirrhosis.

Kenneth J. Smith, MD
Southington, CT

I would not recommend phlebotomy.

Manuel Abecasis, MD
Lisboa, Portugal

For this patient with H63D mutation and relatively high ferritin in his early 40s, I would highly encourage donating blood. As the answer is not entirely clear, and he doesn’t need a regimented phlebotomy schedule, donating blood on his own accord will be convenient for the patient and very likely help him in the process of helping others.

Aman Garsa, MD, MBBS
Dallas, TX

No, I would not recommend phlebotomy.

Isosceles Garbes, MD
West Seneca, NY

 

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