What is HFE gene mutation?
Gene mutations that cause hemochromatosis A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene.
Did hemochromatosis come from the Vikings?
The C282Y mutation is assumed to have arisen in Europe more than 4,000 years ago (30). Its geographical distribution coincides with Viking travel routes, which suggests that the mutation spread with the Vikings. This explains why the vernacular name for haemochromatosis used to be «the Viking disease» (fig. 4) (31).
What is the most common mutation in hemochromatosis?
The gene that causes hereditary hemochromatosis, called HFE, was identified on chromosome 6 in 1996. Most cases of HH result from a common mutation in this gene, known as C282Y.
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 HFE gene mutation test?
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 does HFE mean?
Hereditary hemochromatosis is an autosomal recessive disorder that results from a mutated hemochromatosis (HFE [human factors engineering]) protein. In the bloodstream, iron binds to transferrin, forming diferric transferrin.
Which country has the most hemochromatosis?
The European countries with the highest prevalence include Ireland, France, and Denmark. It has been speculated that the first people with hemochromatosis originated in 4000 B.C. in central Europe 2.
What are the four 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 …
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.
What does it mean to be a carrier of haemochromatosis?
You’ll be diagnosed with haemochromatosis (or at risk of developing iron overload) if you are found to have two faulty copies of the gene. With only one mutation you’ll be told you are a carrier – this means you are unlikely to have any symptoms but may pass the condition on to a child.
What diseases are caused by gene mutations?
Most genetic diseases are the direct result of a mutation in one gene. However, one of the most difficult problems ahead is to further elucidate how genes contribute to diseases that have a complex pattern of inheritance, such as in the cases of diabetes, asthma, cancer, and mental illness.
What produces a genetic mutation?
Causes of gene mutation: Genetic abnormalities may occur naturally or may be caused by a mutagenic source depending on the environment. Mutagenesis sources include radiation such as X-rays or gamma rays, ultraviolet light, cigarette smoke, and dioxin. It is also said that it is more likely to occur with aging.
What are the four types of genetic mutations?
The four main types of chromosomal mutations are deletion, duplication, inversion and translocation. A fifth chromosomal mutation is known as a deficiency. This occurs when a chromosome is lost sometime during fertilization or development of a fetus.
What causes genetic mutations?
Mutations can also be caused by exposure to specific chemicals or radiation. These agents cause the DNA to break down. This is not necessarily unnatural — even in the most isolated and pristine environments, DNA breaks down. Nevertheless, when the cell repairs the DNA, it might not do a perfect job of the repair.