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 is heterozygous H63D mutation?

The homozygous H63D variant is an indicator of the iron metabolism disorder hemochromatosis, which may increase the risk of developing a fatty liver. In patients with a cirrhotic liver, the mutation can increase the rate of liver cancer.

What is C282Y and H63D?

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).

What does it mean to have the 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.

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 heterozygous haemochromatosis?

Homozygous and heterozygous:This refers to how many copies of a mutation or allele a person has. Someone who is heterozygous has one copy, someone who is homozygous has two. Most cases of haemochromatosis are due to people being homozygous for the C282Y allele.

What does it mean to have H63D?

Terms. Heterozygous: Having one copy of the abnormal HFE gene, for example C282Y or H63D – also known as a ‘carrier’. Homozygous: Two copies of the same gene abnormality, for example C282Y and C282Y.

What does the C282Y mutation do?

The first mutation deletes a large portion of the coding sequence, generating a null allele. The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves the gene intact. This mutation is identical to the disease-causing mutation in patients with hereditary hemochromatosis.

Are there different types of hemochromatosis?

Hemochromatosis has been separated into four distinct disorders – hereditary (classic) hemochromatosis, also known as HFE-related hemochromatosis; hemochromatosis type 2 (juvenile hemochromatosis); hemochromatosis type 3, also known as TFR2-related hemochromatosis; and hemochromatosis type 4, also known as ferroportin …

Can you have hemochromatosis with only one gene mutation?

Unlike most genetic diseases, in hemochromatosis there is a single genetic mutation (C282Y) that explains most typical cases.

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?

How are HFE C282Y and H63D genotyped?

In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stratified random sample of 1,438 subjects, followed for an average of 12 years to a mean age of 65 years, completed questionnaires and gave blood. Clinical examinations were blinded to HFE genotype.

Can a H63D Mutation lead to iron overload?

Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: observations in a thalassemic kindred

What are the risks of HFE compound homozygotes?

The risk of HH related morbidity in HFE compound homozygotes patients (H63D /H63D) is considered rare, we report a male patient with H63D mutation who developed impaired glucose tolerance, and high hepatic enzymes due to significant iron accumulation in the liver as well as Parkinsonian-like syndrome due to iron deposition in the basal ganglia.