primary hemochromatosis

pri·mar·y he·mo·chro·ma·to·sis

[MIM*235200]
a specific inherited metabolic defect with increased absorption and accumulation of iron on a normal diet; autosomal recessive inheritance caused by a mutation in the hemochromatosis gene (HFE) on 6p, less florid in females; juvenile hemochromatosis may represent a homozygous state of the same gene.

pri·mar·y he·mo·chro·ma·to·sis

(prī'mar-ē hē'mō-krō'mă-tō'sis)
A specific inherited metabolic defect with increased absorption and accumulation of iron on a normal diet.
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References in periodicals archive ?
However, in light of the intricate balance described above, it appears noteworthy that in the absence of a genetic condition called primary hemochromatosis, the human body absorbs a mere 5% to 15% of ingested iron, even following acute blood (iron) loss.
Enhanced MR imaging of the shoulder, and sternoclavicular and acromioclavicular joint arthritis in primary hemochromatosis.
Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis.
CMS already covers, liver transplants for adults with primary biliary cirrhosis, primary sclerosing cholangitis, hepatitis B-related cirrhosis, and primary hemochromatosis.
Primary hemochromatosis is believed to be a consequence of a genetically determined error of metabolism in which an unexplained increased absorption of iron occurs from the gastrointestinal tract.

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