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Seminars in Hematology, 2002
Juvenile hemochromatosis or type 2 hemochromatosis is a rare inherited recessive disease, which leads to severe iron overload earlier in life than HFE-related hemochromatosis. Increased transferrin saturation and serum ferritin as well as parenchymal iron deposition and liver fibrosis may be observed in childhood.
C. Camaschella+2 more
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Juvenile hemochromatosis or type 2 hemochromatosis is a rare inherited recessive disease, which leads to severe iron overload earlier in life than HFE-related hemochromatosis. Increased transferrin saturation and serum ferritin as well as parenchymal iron deposition and liver fibrosis may be observed in childhood.
C. Camaschella+2 more
openaire +3 more sources
2010
Hemochromatosis is an iron-overload syndrome that includes a hereditary and an acquired form The main cutaneous manifestations are a brownish bronze to slate gray hyperpigmentation due to hemosiderin deposition, hair loss most commonly involving the pubic region, koilonychias, icthyosiform alterations, and generalized pruritus Hyperpigmentation is a ...
Parodi A., Rongioletti F.
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Hemochromatosis is an iron-overload syndrome that includes a hereditary and an acquired form The main cutaneous manifestations are a brownish bronze to slate gray hyperpigmentation due to hemosiderin deposition, hair loss most commonly involving the pubic region, koilonychias, icthyosiform alterations, and generalized pruritus Hyperpigmentation is a ...
Parodi A., Rongioletti F.
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American Heart Journal, 1953
Abstract A case of hemochromatosis with death due to heart failure has been presented. The literature has been reviewed with respect to the pathophysiology of congestive heart failure due to hemochromatosis. The possibility of fatty degeneration of the heart as a precursor of myocardial fibrosis was discussed.
Eugene B. Levin, Abraham Golum
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Abstract A case of hemochromatosis with death due to heart failure has been presented. The literature has been reviewed with respect to the pathophysiology of congestive heart failure due to hemochromatosis. The possibility of fatty degeneration of the heart as a precursor of myocardial fibrosis was discussed.
Eugene B. Levin, Abraham Golum
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Blood Cells, Molecules, and Diseases, 2002
We undertook a three-year screening program for mutations of the HFE gene among 41,000 subjects attending the Kaiser Permanente Health Appraisal Center in San Diego, California. Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis have measurable and consistent effects on iron indicators and are associated ...
Terri Gelbart+4 more
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We undertook a three-year screening program for mutations of the HFE gene among 41,000 subjects attending the Kaiser Permanente Health Appraisal Center in San Diego, California. Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis have measurable and consistent effects on iron indicators and are associated ...
Terri Gelbart+4 more
openaire +3 more sources
Magnetic resonance imaging of neonatal hemochromatosis
Pediatric Radiology, 2021G. Chavhan+3 more
semanticscholar +1 more source
Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis.
New England Journal of Medicine, 1985We analyzed survival and causes of death among 163 patients with primary hemochromatosis diagnosed between 1959 and 1983. The mean follow-up period was 10.5 +/- 5.6 years (+/- S.D.). Cumulative survival was 92 per cent at 5 years, 76 per cent at 10 years,
C. Niederau+5 more
semanticscholar +1 more source
Archives of Dermatology, 1964
The case history of a 47-year-old male patient with vitiligo and hemochromatosis is reported. Skin biopsies disclose the uniform distribution of iron pigmentation, although the vitiligo spots seem to be deficient in melanin as opposed to the dark-colored skin areas where contents of melanin apparently have increased.
Hemming Poulsen, Axel Perdrup
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The case history of a 47-year-old male patient with vitiligo and hemochromatosis is reported. Skin biopsies disclose the uniform distribution of iron pigmentation, although the vitiligo spots seem to be deficient in melanin as opposed to the dark-colored skin areas where contents of melanin apparently have increased.
Hemming Poulsen, Axel Perdrup
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HEMOCHROMATOSIS AND CHRONIC POISONING WITH COPPER
, 1926Hemochromatosis is not so rare a disease as is generally supposed but the clinician has difficulty in recognizing it until the final stage when the three characteristic signs, cirrhosis of the liver, diabetes mellitus and pigmentation of the skin, are ...
F. B. Mallory
semanticscholar +1 more source