High Iron Satuaration in blood test

[irishjo]

56 year old male, my father... average weight, casual drinker non smoker, no operations,H.pyolori treated, not a diabetic, has a blood pressure 100 over 60 and BP of 68 resting.. and of Irish Decent, has a proven a genetic mutation haemochromatosis HETEROZYGOUS FOR C282Y MUTATION HETEROZYGOUS FOR H63D MUTATION COMPOUND HETEROZYGOUS GENOTYPE Positive
and as a result has had a blood test and it shows 82% iron saturation.
        What sort of organ damage can be expected. If he gives blood every 2 weeks as suggested can he have a healthier life.
If this condition is life threatening. If so please explain.
Having cat scan,  and ultra sounds on his organs to see to what extent of damage has been caused up to date. He been told that the level of iron is so high it caused possible his organs become harden. The main concern is he had 82% level for so long undetected what the progonois for his full recovery hypothetically speaking. These questions are just for personal& education use only.
Will his children be a high risk of getting this disease?
Thank you for your assistance in this matter.

Kind Regards
Joanne

[Kevin Pho, MD]

Hello - thanks for asking your question.

Hemochromatosis has several effects on different organs.  Follow-up with your personal physician is strongly suggested.  

Hereditary hemochromatosis, also called genetic hemochromatosis, is a genetically determined disorder in which mutations in the HFE gene cause increased intestinal iron absorption, perhaps via an interaction with the transferrin receptor. The clinical manifestations of this disorder (and of other forms of iron overload) are related to iron deposition in tissues, such as the liver, pancreas, and heart.

The clinical manifestations of iron accumulation include liver disease, skin pigmentation, diabetes mellitus, arthropathy, impotence in males, and cardiac enlargement with or without heart failure or conduction defects. One report, for example, evaluated 251 patients diagnosed from 1959 to 1992. The following abnormalities were noted at presentation (1):

Liver function abnormalities — 75 percent
Weakness and lethargy — 74 percent
Skin hyperpigmentation — 70 percent
Diabetes mellitus — 48 percent
Arthralgia — 44 percent
Impotence in males — 45 percent
Electrocardiographic abnormalities — 31 percent

Without knowing or examining your father, it is difficult to determine issues like prognosis and complications.  The links below will point you to more information regarding this disease.

I would strongly suggest that you follow this up with your personal physician or gastroenterologist.

I stress that this answer is not intended as and does not substitute for medical advice - please see your personal physician for further evaluation of your individual case.

Thanks,
Kevin, M.D.

Links:
Medline Plus - Hemochromatosis
http://www.nlm.nih.gov/medlineplus/hemochromatosis.html

NIDDK - Hemochromatosis
http://www.niddk.nih.gov/health/digest/pubs/hemochrom/hemochromatosis.htm#tests

Bibliography:
1) Niederau, C, Strohmeyer, G, Stremmel, W. Epidemiology, clinical spectrum, and prognosis of hemochromatosis. Adv Exp Med Biol 1994; 356:293.

[Hyena of Ice]

I think this question would be more appropriate in the forum that deals with circulatory disorders.  They'll be much more knowledgable about the condition than those who study gastroenterology.