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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/07/15 11:20:46」(JST)

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  • Hepatocyte divalent metal-ion transporter-1 is dispensable for hepatic iron accumulation and non-transferrin-bound iron uptake in mice.
  • Wang CY1, Knutson MD.
  • Hepatology (Baltimore, Md.).Hepatology.2013 Aug;58(2):788-98. doi: 10.1002/hep.26401. Epub 2013 Jul 1.
  • Divalent metal-ion transporter-1 (DMT1) is required for iron uptake by the intestine and developing erythroid cells. DMT1 is also present in the liver, where it has been implicated in the uptake of transferrin-bound iron (TBI) and non-transferrin-bound iron (NTBI), which appears in the plasma during
  • PMID 23508576
  • Known and potential roles of transferrin in iron biology.
  • Bartnikas TB1.
  • Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine.Biometals.2012 Aug;25(4):677-86. doi: 10.1007/s10534-012-9520-3.
  • Transferrin is an abundant serum metal-binding protein best known for its role in iron delivery. The human disease congenital atransferrinemia and animal models of this disease highlight the essential role of transferrin in erythropoiesis and iron metabolism. Patients and mice deficient in transferr
  • PMID 22294463
  • Non-HFE hepatic iron overload.
  • Pietrangelo A1, Caleffi A, Corradini E.
  • Seminars in liver disease.Semin Liver Dis.2011 Aug;31(3):302-18. doi: 10.1055/s-0031-1286061. Epub 2011 Sep 7.
  • Numerous clinical entities have now been identified to cause pathologic iron accumulation in the liver. Some are well described and have a verified hereditary basis; in others the genetic basis is still speculative, while in several cases nongenetic iron-loading factors are apparent. The non- HFE he
  • PMID 21901660


  • A Case of Atransferrinemia and 35 Cases of Hypotransferrinemia as Detected by Radioassay of Total Iron-binding Capacity of the Serum
  • Saito Hiroshi [他]
  • Japanese Journal of Medicine 16(4), p342-348, 1977-10
  • NAID 40005320277
  • 家族性がみられたcongenital atransferrinemia(血漿蛋白 グロブリンの化学と病態生理 特集)


Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy,functional red cells in the blood (hypochromic,microcytic anemia) and by the accumulation of excess iron in the body ...
The symptoms and severity of atransferrinemia vary from one person to another depending upon the specific location and extent of iron accumulation in the body. Some individuals may develop mild symptoms, others may develop ...



拡張検索congenital atransferrinemia



低トランスフェリン血症 hypotransferrinemia

congenital atransferrinemia」

  [★] 先天性無トランスフェリン血症