Growth in Hemochromatosis

  • Yasuhiro Nagayoshi


Iron is an essential element for all living organisms. It is necessary for the formation of hemoglobin, and there is an increased need for iron generated by growth spurts. Inadequate supplies of iron during growth spurts can result in delayed maturation. Iron overload, however, is also harmful. Excess iron deposition in parenchymal tissue leads to multiple organ dysfunction. Iron overload can be caused by both genetic and nongenetic factors. Since the discovery of HFE mutations, hereditary hemochromatosis has been recognized as a common inherited disorder. HFE-associated hemochromatosis is the most common genetic disorder, especially in populations of Northern European origin. Recently, several important regulators of iron homeostasis have been discovered. Hepcidin is a central player in iron regulation; it directly regulates intestinal iron absorption, and a mutation in the hepcidin-encoding gene leads to rapid iron accumulation. The HFE protein, hemojuvelin, and transferrin receptor 2 are considered to be upstream modulators of hepcidin. Hemochromatosis results in the classic triad of diabetes mellitus, skin pigmentation, and liver cirrhosis. However, clinical manifestations are markedly influenced by several factors such as mutations in hemochromatosis-associated genes, gender, and other underlying diseases. Hemochromatosis is often misdiagnosed and untreated. Family history provides important diagnostic clues, and iron overload is diagnosed by measuring transferrin saturation percentage and serum ferritin levels. However, the physician must be aware that normal infants can have high transferrin saturation percentages and elevated serum ferritin levels. Magnetic resonance imaging is a useful tool for detecting iron deposition in organs. Histological biopsy is not necessary for diagnosis. Frequent phlebotomy can remove iron from parenchymal cells, and iron chelation therapy is useful for selected patients. Dysfunction of some organs is irreversible, however. If untreated, hemochromatosis can cause serious illness and early death; therefore, early diagnosis and appropriate management are critical to prognosis.


Iron Overload Transferrin Receptor Iron Deposition Serum Ferritin Level Hereditary Hemochromatosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Bone morphogenic protein


Computed tomography


Duodenal cytochrome b-like protein


Divalent metal transporter-1


Heme carrier protein-1


Hyperferritinemia cataract syndrome


Magnetic resonance imaging


Transferrin saturation percentage



The author would like to thank Dr Hisao Ogawa, Dr Seigo Sugiyama, Dr Hiroaki Kawano, and Dr Masafumi Nakayama, Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, and Dr Yutaka Kuroda, Department of Community Medicine, Kumamoto University Hospital for their discussion on this manuscript. The author is grateful to Dr Masayoshi Kage, Department of Pathology, Kurume University School of Medicine and Dr Takahisa Yoshida, Section of Pathology, Fukuoka Tokusyukai Hospital for their important contributions. The cooperation of patients and families involved in our study is gratefully acknowledged.


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of Cardiovascular Medicine, Graduate School of Medical SciencesKumamoto UniversityKumamoto CityJapan
  2. 2.Department of Community MedicineKumamoto University HospitalKumamoto CityJapan

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