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Page 1
Current approach to hemochromatosis.
Brissot P, Troadec MB, Bardou-Jacquet E, Le Lan C, Jouanolle AM, Deugnier Y, Loréal O. Brissot P, et al. Blood Rev. 2008 Jul;22(4):195-210. doi: 10.1016/j.blre.2008.03.001. Epub 2008 Apr 21. Blood Rev. 2008. PMID: 18430498 Review.
Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases which are type 2 (A and B) hemochromatosis (juvenile hemochromatosis), type 3 hemochromatosis (transferrin receptor 2 hemochromatosis), …
Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases whi …
[Non-HFE-related hereditary iron overload].
Aguilar-Martinez P. Aguilar-Martinez P. Presse Med. 2007 Sep;36(9 Pt 2):1279-91. doi: 10.1016/j.lpm.2007.01.042. Epub 2007 May 30. Presse Med. 2007. PMID: 17540536 Review. French.
It includes hereditary hemochromatosis related to mutations of other genes, ferroportin disease (also known as hemochromatosis type 4), and entities associated with specific clinical manifestations. ...
It includes hereditary hemochromatosis related to mutations of other genes, ferroportin disease (also known as hemochromatosis typ …
Effect of ferroportin polymorphism on iron homeostasis and infection.
Kasvosve I. Kasvosve I. Clin Chim Acta. 2013 Feb 1;416:20-5. doi: 10.1016/j.cca.2012.11.013. Epub 2012 Nov 21. Clin Chim Acta. 2013. PMID: 23178444 Review.
Dozens of FPN gene mutations have been identified in different ethnic populations and some of the mutations are associated with autosomal dominant iron overload disorder described as FPN disease or hemochromatosis type 4 that is distinct from hereditary hemoc …
Dozens of FPN gene mutations have been identified in different ethnic populations and some of the mutations are associated with autosomal do …
Rare causes of hereditary iron overload.
Ponka P. Ponka P. Semin Hematol. 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. Semin Hematol. 2002. PMID: 12382200 Review.
Plasma iron, together with dominant inheritance, discriminates iron overload due to ferroportin mutations (hemochromatosis type 4) from hemochromatosis type 1. Heme oxygenase 1 is essential for the catabolism of heme and in the recycling of hemoglobin iron in …
Plasma iron, together with dominant inheritance, discriminates iron overload due to ferroportin mutations (hemochromatosis type …
[Genetics of hereditary iron overload].
Le Gall JY, Jouanolle AM, Fergelot P, Mosser J, David V. Le Gall JY, et al. Bull Acad Natl Med. 2004;188(2):247-62; discussion 262-3. Bull Acad Natl Med. 2004. PMID: 15506716 Review. French.
In addition to this wide range of genetic abnormalities, two other features characterize these iron disorders: 1) most are transmitted by an autosomal recessive mechanism, but some, including hemochromatosis type 4, have dominant transmission; and 2) most cor …
In addition to this wide range of genetic abnormalities, two other features characterize these iron disorders: 1) most are transmitted by an …