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There are five types of hereditary hemochromatosis: type 1, 2 (2A, 2B), 3, 4 [9] and 5, [10] all caused by mutated genes. Hereditary hemochromatosis type 1 is the most frequent, and uniquely related to the HFE gene. It is most common among those of Northern European ancestry, in particular those of Celtic descent. [11]
Haemochromatosis type 3 is a type of iron overload disorder associated with deficiencies in transferrin receptor 2.It exhibits an autosomal recessive inheritance pattern. [2] [3] [4] The first confirmed case was diagnosed in 1865 by French doctor Trousseau.
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
The presence of hemochromatosis may be discovered incidentally on blood testing, or a diagnosis suspected based on symptoms may be supported or ruled out by blood testing. Elevated serum ferritin , an indicator of blood iron levels, and transferrin saturation , which is involved with absorption of iron from the gut, are very common.
Over time, iron stores increase, and individuals with type 4A hemochromatosis may develop hepatic fibrosis. [3] The symptoms of type 4B hemochromatosis tend to be more severe. They resemble the symptoms of hemochromatosis types 1, 2, and 3. Plasma iron concentration is elevated, and symptoms include joint pain, diabetes, and arrhythmia.
The homozygous HFE-H63D mutation is the cause of classic and treatable hemochromatosis in only 6.7% of its carriers. [25] H63D syndrome is independently a distinct entity, and the incidence in homozygous carriers of the H63D mutation is approximately 10%. [26]
More mysterious symptoms started showing up—and I finally hit my breaking point. After about three months, I got a rash all over my legs. I had horrible cramping in my stomach, was exhausted all ...
For instance, a severe form of iron overload, juvenile hemochromatosis, is a result of severe hepcidin deficiency. The majority of cases are caused by mutations in the hemojuvelin gene (HJV or RGMc/repulsive guidance molecule c). The exceptions, people who have mutations in the gene for ferroportin, prove the rule: these people have plenty of ...