What is HFE H63D mutation?
The H63D HFE mutation is a histidine-to-aspartic acid substitution at amino acid position 63. It has also been associated with hemochromatosis, but to a lesser extent than C282Y; the overall clinical significance of this mutation remains unclear.
Does H63D cause hemochromatosis?
The C282Y mutation in the HFE (hemochromatosis) gene is the main one that causes hemochromatosis, and 83% of hemochromatosis patients are YY homozygotes (1). The second variant of the HFE gene, the H63D polymorphism, is not per se associated with hemochromatosis, but it acts synergistically with the C282Y mutation (1).
How common is H63D mutation?
The presence of a single H63D mutation is an extremely common polymorphism, occurring in approximately 25% of a healthy population. Individuals with a heterozygous H63D genotype almost never develop HH. Approximately 2% of Caucasians have a homozygous H63D genotype.
What is Hemochromatosis H63D?
H63D is most famous for being involved in something called hereditary hemochromatosis. Basically people with this disease have too much iron in their blood. Typically, this disease is easily controlled by frequent blood donations that help keep the amount of iron in a persons’ body at a safe level.
What are the symptoms of H63D?
Many patients with hemochromatosis are asymptomatic and are diagnosed only as a result of family screening, or after blood tests suggest increased iron. Early signs are nonspecific and can include weakness, lethargy, increased skin pigmentation, hair loss, impotence, joint pains, vertigo, and loss of memory.
Can you have hemochromatosis with only one gene mutation?
The fact is that you can exhibit symptoms of excess iron with only a single gene, and in some cases, without any gene mutation at all! A fascinating review from the American Journal of Epidemiology found that 78% of people diagnosed with hereditary hemochromatosis are homozygous for C282Y.
What is HFE gene testing?
Hemochromatosis gene (HFE) testing is a blood test used to check for hereditary hemochromatosis, an inherited disorder that causes the body to absorb too much iron. The iron then builds up in the blood, liver, heart, pancreas, joints, skin, and other organs.
What chromosome is the HFE gene?
In 1996, HFE, the gene for HHC, was mapped on the short arm of chromosome 6 (6p21. 3). Two of the 37 allelic variants of HFE described to date (C282Y and H63D) are significantly correlated with HHC. Homozygosity for the C282Y mutation was found in 52-100% of previous studies on clinically diagnosed probands.
Do both parents have to have hemochromatosis?
Hereditary hemochromatosis is a genetic condition. For kids to get it, both of their parents must have the gene that causes the condition. But many kids who inherit the gene from their parents do not develop any problems.
Is the H63D HFE mutation a missense mutation?
The C282Y is a missense mutation, with a cysteine-to-tyrosine substitution at amino acid position 282. The C282Y mutation has been the most strongly implicated in the development of hemochromatosis. The H63D HFE mutation is a histidine-to-aspartic acid substitution at amino acid position 63.
What is the function of the HFE H63D gene?
The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of an aspartic acid for a histidine at amino acid position 63 of the HPE protein (p.His63Asp). HFE participates in the regulation of iron absorption.
Is the HFE gene heterozygosis H63D increased prevalence?
We have not found a significantly increased prevalence of the mutation H63D in the HFE gene in our patients with NASH. In these patients there was no more severe hepatic histological score when compared with NASH subjects without HFE mutations. The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with steatohepatitis?
Is the HFE gene a cofactor for liver damage?
The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with steatohepatitis? Epidemiological and clinical considerations We have not found a significantly increased prevalence of the mutation H63D in the HFE gene in our patients with NASH.