The report provides a snapshot of the global therapeutic landscape of Hemochromatosis
Patients with hereditary hemochromatosis
may be asymptomatic or may present with generalized weakness.
Liver disease: Hemochromatosis
liver disease resembles and exacerbates viral hepatitis, alcoholic hepatitis, and porphyria.
Clinical consult: iron overload-hereditary hemochromatosis
The term hemochromatosis
encompasses all diseases with iron accumulation disorders.
But only those who inherit two C282Y mutations, one from their mother and one from their father, are at risk for hemochromatosis
, which is full-blown iron overload.
Mutations of the HFE gene are found in nearly 90% of patients with clinical hemochromatosis
, most of whom are homozygous (2).
Genetic testing revealed that the patient was homozygous for the C282Y mutation of the HFE gene, confirming a postmortem diagnosis of hereditary hemochromatosis
In contradiction, hemochromatosis
preferentially deposits iron in the pituitary gland.
Medical College of Georgia researchers are pursuing a link between hemochromatosis
, which results in iron overload, and the wet form of macular degeneration, the leading cause of blindness in people 60 and older.
is a serious condition that is a result of untreated iron overload.
The have organized the papers into sections that focus in turn on: chemistry, biochemistry, and the formation and reactivity of endogenous toxins such as metabolic intermediates and reactive oxygen species, particularly those associated with excessive sugar, fat, meat, or alcohol consumption; the association of increased endogenous toxin levels with inborn errors of metabolism such as galactosemia, hyperlipidemia, porphyria, hemochromatosis
, and related conditions; examples of endogenous toxins that appear to be associated with acquired diseases or animal disease models, including hepatic injury, asthma, rheumatism, colorectal cancer, reperfusion diseases, neurodegeneration, and aging; and nutritional and pharmacologic therapeutics that have been proposed for decreasing endogenous toxins.