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What causes hemochromatosis?

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Internal Medicine Specialist
Practicing since : 2004
Answered : 364 Questions
I had a DNA check for hemochromatosis, and the findings were "Heterozygous for the H63D Mutation". My mother had hemochromatosis. My Dr. Signed a waiver to allow me to give blood at Medic on a PRN basis. With the waiver, I have given several pints over the past two months. My Hematocrit is down from 53.9 to 40. My question relates to tests taken before I started giving blood every two weeks. 11/15/2013 Results Ferritin 192 Iron 92 Transferrin 293 TIBC 437 - The only thing that shows to be high. Saturation 21 Being that I have the one mutation, do I have partial Hemochromatosis? Why is everything in normal ranges except TIBC?
Posted Fri, 28 Feb 2014 in Blood Disorders
Answered by Dr. Enrique Molina 4 hours later
Brief Answer: i dont think you have hemochromatosis Detailed Answer: hello, you don't seem to have hemochromatosis. the heterozygous mutation is fairly common in the general population, although it does increase the chances of manifesting the disease (however a mutation called C282Y is much more common to develop the disease). If you have a "saturation" of 21%, that is normal. It is considered abnormal to have a saturation above 45%, but you would be much more likely to have the disease if it is above 60% (for men, or 50% in women). Usually ferritin levels above 1000 are XXXXXXX and can lead to cirrhosis, and other problems in the body due to iron overload, however with a ferritin level of 192 and a normal iron level of 92, I would not recommend you to be giving blood every 2 weeks. I would suggest regular follow up with a primary care physician or hepatologist or hematologist in order to monitor your bloodwork. if you iron studies start to go up, then blood donation (phlebotomies) may be re-considered. TIBC is a protein that binds the iron and transports it. it usually goes up when your body is trying to keep iron in your system. For now i would suggest you to avoid or minimize foods rich in iron (such as red meats) and avoid Vitamin C supplements (which improve absorption of iron contained in the food into your body). Hope that helped.
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