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Hemochromatosis type 4 information


Haemochromatosis type 4
Other namesFerroportin disease
SpecialtyHepatology, Medical genetics
CausesMutation in ferroportin gene
Differential diagnosisHereditary hemochromatosis
TreatmentPhlebotomy, Iron chelation
FrequencyRare

Hemochromatosis type 4 is a hereditary iron overload disorder that affects ferroportin, an iron transport protein needed to export iron from cells into circulation.[1] Although the disease is rare, it is found throughout the world and affects people from various ethnic groups. While the majority of individuals with type 4 hemochromatosis have a relatively mild form of the disease, some affected individuals have a more severe form. As the disease progresses, iron may accumulate in the tissues of affected individuals over time, potentially resulting in organ damage.[2]

  1. ^ Roetto, A.; Camaschella, C. (2005). "New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis". Best Practice & Research Clinical Haematology. 18 (2): 235–250. doi:10.1016/j.beha.2004.09.004. PMID 15737887.
  2. ^ Pietrangelo, A. (2004). "Non-HFE hemochromatosis". Hepatology. 39 (1): 21–29. doi:10.1002/hep.20007. PMID 14752817.

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Hemochromatosis type 4

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are five types of hereditary hemochromatosis: type 1, 2 (2A, 2B), 3, 4 and 5, all caused by mutated genes. Hereditary hemochromatosis type 1 is the most...

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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene"...

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Ferroportin

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known to cause an autosomal dominant form of iron overload known as Hemochromatosis type 4 or Ferroportin Disease. The effects of the mutations are generally...

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defects (see Type 3c diabetes, i.e. pancreatogenic diabetes) Chronic pancreatitis Pancreatectomy Pancreatic neoplasia Cystic fibrosis Hemochromatosis Fibrocalculous...

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Ferritin

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Iron supplement

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Transferrin receptor 2

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into the cells of the body. Certain mutations in the HFE gene cause hemochromatosis (an iron overload disorder). People who have these mutations are also...

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Porphyria

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recessive, or X-linked dominant manner. One type, porphyria cutanea tarda, may also be due to hemochromatosis (increased iron in the liver), hepatitis C...

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Geritol

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function, genetic disorders such as Wilson's disease and hereditary hemochromatosis, and chronic heart failure with liver congestion. Diagnosis is based...

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FTH1

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FTH1 gene is located on chromosome 11, and its mutation causes Hemochromatosis type 5. This gene encodes the heavy subunit of ferritin, the major intracellular...

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