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.
Mentioned in ?
References in periodicals archive ?
Most patients with primary hemochromatosis do not have involvement of the spleen; iron deposition in primary hemochromatosis occurs in the parenchymal cells of the liver (hepatocytes), hence splenic signal intensity usually is normal in these patients where as in secondary hemochromatosis, iron deposition occurs in reticulo endothelial system (Kupffer cells and spleen).
Survival and causes of death in cirrhotic patients with primary hemochromatosis.
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.
Other causes of cystic splenic masses, such as parasitic cysts, various vascular tumors, fluid collections related to pancreatitis, benign tumors of the spleen, and cystic metastases, and the primary hemochromatosis of spleen which show calcification.
CMS already covers, liver transplants for adults with primary biliary cirrhosis, primary sclerosing cholangitis, hepatitis B-related cirrhosis, and primary hemochromatosis.
While infrequent, hemochromatosis may occur in ESRD patients: 1 in 300 Caucasians are homozygous for the gene for primary hemochromatosis, and 1 in 10 are heterozygous (Bregman et al.
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.
9-12) Because primary hemochromatosis is a common comorbid condition with diabetes, (13-15) most work on the relation between hemochromatosis and diabetes has focused on screening patients with diabetes for hemochromatosis.
Primary hemochromatosis in children: report of three new diagnosed cases and review of the pediatric literature.

Full browser ?