Juvenile hemochromatosis

Clara Camaschella, Antonella Roetto, Marco De Gobbi

Research output: Contribution to journalArticle

Abstract

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. Clinical symptoms of hypogonadism and cardiac disease develop before the age of 30. The disease is usually progressive and if untreated may become fatal because of heart failure. The type 2 hemochromatosis locus maps to chromosome 1q21, but the gene has not yet been isolated. The severity and the early expression of juvenile hemochromatosis suggest that the gene product has a crucial role in the regulation of iron homeostasis.

Original languageEnglish
Pages (from-to)242-248
Number of pages7
JournalSeminars in Hematology
Volume39
Issue number4
DOIs
Publication statusPublished - Oct 2002

Fingerprint

Iron
Iron Overload
Hemochromatosis
Hypogonadism
Transferrin
Ferritins
Liver Cirrhosis
Genes
Heart Diseases
Homeostasis
Heart Failure
Chromosomes
Type 2 Hemochromatosis
Serum

ASJC Scopus subject areas

  • Hematology

Cite this

Camaschella, C., Roetto, A., & De Gobbi, M. (2002). Juvenile hemochromatosis. Seminars in Hematology, 39(4), 242-248. https://doi.org/10.1053/shem.2002.35635

Juvenile hemochromatosis. / Camaschella, Clara; Roetto, Antonella; De Gobbi, Marco.

In: Seminars in Hematology, Vol. 39, No. 4, 10.2002, p. 242-248.

Research output: Contribution to journalArticle

Camaschella, C, Roetto, A & De Gobbi, M 2002, 'Juvenile hemochromatosis', Seminars in Hematology, vol. 39, no. 4, pp. 242-248. https://doi.org/10.1053/shem.2002.35635
Camaschella C, Roetto A, De Gobbi M. Juvenile hemochromatosis. Seminars in Hematology. 2002 Oct;39(4):242-248. https://doi.org/10.1053/shem.2002.35635
Camaschella, Clara ; Roetto, Antonella ; De Gobbi, Marco. / Juvenile hemochromatosis. In: Seminars in Hematology. 2002 ; Vol. 39, No. 4. pp. 242-248.
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