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If you have hemochromatosis, you absorb more iron than you need. Hemochromatosis support has 6,314 members. Welcome to this a closed group.. meaning no one that is not a member can see this support group.. My mom and one brother and I have been DNA tested, His brother 61 years old has a compound heterozygous C282Y/H63D hemochromatosis managed with phlebotomy treatment every 2 weeks up to a ferritin to 56 ng/ml during a phase of attack (the initial serum ferritin 756 ng/ml), his sister and mother have diabetes mellitus.

Compound heterozygous for p.C282Y and p.H63D. Implications for patients. Iron overload may arise in compound heterozygotes for the C282Y and the H63D gene variants. This genotype is present in 5% of clinically affected people. 1 in 70 (1.3%) people in the European population have this genotype.

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1 A smaller percentage have iron overload as high as that of homozygotes. Compound heterozygous for p.C282Y and p.H63D. Implications for patients.

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12 Approximately 25% of heterozygotes have abnormal iron studies. 1 A smaller percentage have iron overload as high as that of homozygotes. Compound heterozygous for p.C282Y and p.H63D.

If the mutation is associated with a recessive disease such as hereditary hemochromatosis (HH), the individual is called a carrier.
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diagnosis for most patients. Several genotype-phenotype correlation studies have clarified the differences in clinical features between patients with the C282Y homozygous genotypes and other HFE mutation patterns. The increasing use of noninvasive tests such as MRI T2* has made quantification of hepatic iron deposition easier and eliminated the need for liver biopsy in most patients.

Hepatology. 2011:54(1);328-343 •Seckington R, Powell L. HFE-Associated Hereditary Hemochromatosis. 2000 Apr 3 [Updated 2015 Sep 17].
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17 Feb 2021 Genetic testing showed that the patient was heterozygous for human liver disease in simple heterozygotes with hereditary hemochromatosis, 4 Jan 2018 HFE-related Hereditary Haemochromatosis. Compound heterozygotes for the C282Y and the H63D (particularly where other reasons for iron heterozygosity (C282Y/wt or H63D/wt) gives less potential for iron overload.

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Morbidity, risk of cancer and mortality in 3645 HFE mutations

Individuals who are compound heterozygous for C282Y and S65C may have a small risk for mild hemochromatosis.