Disease-related conditions in relatives of patients with hemochromatosis

Article Abstract:

Many relatives of patients with hemochromatosis have a condition related to hemochromatosis, including liver cirrhosis, liver fibrosis, and joint disease. Hemochromatosis is a genetic disorder that causes excessive iron deposits in various organs.

Genetic aspects

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Screening for hemochromatosis

Article Abstract:

Widespread screening for hereditary hemochromatosis could lead to fewer complications and deaths among patients with this disease. Hereditary hemochromatosis is a fairly common genetic disorder that is characterized by increased absorption of iron by the intestines. It can cause complications such as abnormalities in skin pigmentation, cirrhosis of the liver, diabetes, endocrine gland failure, heart failure and joint disease. Hemochromatosis is caused by a mutation in a gene located on chromosome six. Hemochromatosis patients have higher transferrin saturation and blood levels of ferritin; these levels can be tested. Measurement of transferrin saturation is the most sensitive test. Identification of asymptomatic individuals with hereditary hemochromatosis would aid early treatment for the disease. Patients with accumulation of iron in the liver should be treated with whole-blood phlebotomy (removal of blood).

Diagnosis, Medical screening, Health screening, Genetic disorders

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Clinical and biochemical abnormalities in people heterozygous for hemochromatosis

Article Abstract:

People who are heterozygous for hemochromatosis, an excess of iron deposits in the body, have distinct clinical and biochemical abnormalities. The genetic mutation is found on chromosome 6. Iron in the blood and transferritin-saturation values were higher in 1,058 heterozygotes than in 321 normal people, especially among men. Clinical and biochemical abnormalities were more distinct in people who had inherited the disease from their father's side. Liver damage was minimal in this group, unless caused by alcohol or other pathological conditions.

Research, Analysis, Physiological aspects, Gene mutations, Gene mutation, Phenotype, Phenotypes

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