Hemochromatosis Support Group

Hemochromatosis is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder. Hemochromatosis is notorious for having symptoms that are often initially misattributed to other diseases.

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Gastrointestinal System
/ Hemochromatosis Support Group

C282Y/H63D Combo

jbelar
jbelar
Anybody have any insight into this gene combo? I am homo C282Y but my husban came back hetero for the H63D gene mutation. We have 3 kids so they have a 50/50 chance of getting this combo.
deleted_user
deleted_user
Hi Jbelar,

check this out it will explain much better than I can

http://www.toomuchiron.ca/disorder/inheritance.php

meechie
deleted_user
deleted_user
I have it. I was just diagnosed this last week. I had my first phlebotomy yesterday.
jbelar
jbelar
How old are you (if you don't mind me asking)? What were your numbers at diagnosis (iron, ferritin, sat %)?
deleted_user
deleted_user
Sure, no problem. I just turned 28. The reason I was even tested is because my father is a homozygous C282Y carrier. I had my testing done at my routine annual exam screening for general health and I cam back as a heterozygous C282Y/H63D. I made an appointment with my dad's hematologist. I had my levels drawn and two days later had my first phlebotomy. Now according to the IDI, my levels are borderline and the accepted standard of care is blood donation every 8 weeks. So, that's what I'll be doing from now on. My levels at phlebotomy were:

Iron (UG/DL): 118
Iron Binding Capacity (UG/DL): 309
FE++ Saturations (%): 38
Ferritin Level Serum (NG/ML): 89.3

Which I've learned as far as hemachrmatosis goes is actually not that bad. So now, I will be donating 3 blocks from my home once every two months and check in with my hematologist every 4 months. I was really shocked at first and having a hard time dealing with it before I spoke to the people at the iron disorders institute (IDI) of America. They were very reassuring and they have a WEALTH of information to give to patients with every variance of iron disorder.
The patient charts can be found in the library section at http://www.irondisorders.org/