• Korean Journal of Clinical Laboratory Science
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• v.49 no.4
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• pp.495-497
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• 2017

Thalassemia major is a genetic disorder with a defective synthesis of either the alpha or the beta chain of hemoglobin A. Blood transfusion is crucial for the survival in these patients. Unfortunately, endocrine dysfunction is a very common complication in these patients and is principally due to excessive iron overload as a result of frequent blood transfusions. Although regular blood transfusion may increase life expectancy, disturbances in growth and pubertal development, abnormal gonadal functions, impaired thyroid, parathyroid and adrenal functions, diabetes, and disorderly bone growth are common side effects. We hereby present a case of a 23-year-old, unmarried woman with beta thalassemia major presenting with primary amenorrhea, poor development of secondary sexual character, and short stature. Thorough history, clinical examination, and laboratory investigation, including dynamic function test (insulin tolerance test) were conducted. These tests confirmed that she had multiple endocrinopathies, including hypogonadotropic hypogonadism, growth hormone deficiency, and subclinical adrenal insufficiency, which were caused by iron overload. She required hormone replacement therapy. Early recognition of possible deficiencies in hypothalamo-pituitary-end organ hormones caused by iron overload in thalassemia patients that undergo frequent blood transfusion procedures is essential. Appropriate treatments, including transfusion regimen and chelation therapy, as well as specific treatment of each complication are the crucial for the successful management and improvement of quality of life these patients.

• Investigative Magnetic Resonance Imaging
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• v.23 no.4
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• pp.390-394
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• 2019

Hemosiderosis is characterized by the deposition of excess iron in body tissues. The choroid plexus is an important part of the central nervous system that can be the primary site of iron overload. T2*-weighted gradient echo (GRE) sequence provides high sensitivity for demonstrating cerebral microhemorrhagic foci and iron deposition. In the present study, we describe the case of a 15-year-old boy with acute lymphoblastic leukemia, in whom repeated transfusion led to iron accumulation in the brain. GRE sequence effectively demonstrated hemosiderin deposition in the choroid plexus.

• Proceedings of the Korean Society of Toxicology Conference
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• 2002.05a
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• pp.93-93
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• 2002

Oxidative stress has been associated with a number of diseases in humans. Among the sources that can generate oxidative stress, it has been reported that iron can generate reactive oxygen species (ROS) with thiol. In iron overload state, increased thiol levels in plasma appeared to be associated with human mortality.(omitted)

• Proceedings of the KSCN Conference
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• 2004.12a
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• pp.149-149
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• 2004

• Proceedings of the Korean Society of Community Living Science Conference
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• 2005.10a
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• pp.73-77
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• 2005

• Toxicological Research
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• v.31 no.4
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• pp.347-354
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• 2015

Excess manganese (Mn) is neurotoxic. Increased manganese stores in the brain are associated with a number of behavioral problems, including motor dysfunction, memory loss and psychiatric disorders. We previously showed that the transport and neurotoxicity of manganese after intranasal instillation of the metal are altered in Hfe-deficient mice, a mouse model of the iron overload disorder hereditary hemochromatosis (HH). However, it is not fully understood whether loss of Hfe function modifies Mn neurotoxicity after ingestion. To investigate the role of Hfe in oral Mn toxicity, we exposed Hfe-knockout ($Hfe^{-/-}$) and their control wild-type ($Hfe^{+/+}$) mice to $MnCl_2$ in drinking water (5 mg/mL) for 5 weeks. Motor coordination and spatial memory capacity were determined by the rotarod test and the Barnes maze test, respectively. Brain and liver metal levels were analyzed by inductively coupled plasma mass spectrometry. Compared with the water-drinking group, mice drinking Mn significantly increased Mn concentrations in the liver and brain of both genotypes. Mn exposure decreased iron levels in the liver, but not in the brain. Neither Mn nor Hfe deficiency altered tissue concentrations of copper or zinc. The rotarod test showed that Mn exposure decreased motor skills in $Hfe^{+/+}$ mice, but not in $Hfe^{-/-}$ mice (p = 0.023). In the Barns maze test, latency to find the target hole was not altered in Mn-exposed $Hfe^{+/+}$ compared with water-drinking $Hfe^{+/+}$ mice. However, Mn-exposed $Hfe^{-/-}$ mice spent more time to find the target hole than Mn-drinking $Hfe^{+/+}$ mice (p = 0.028). These data indicate that loss of Hfe function impairs spatial memory upon Mn exposure in drinking water. Our results suggest that individuals with hemochromatosis could be more vulnerable to memory deficits induced by Mn ingestion from our environment. The pathophysiological role of HFE in manganese neurotoxicity should be carefully examined in patients with HFE-associated hemochromatosis and other iron overload disorders.

• Journal of Nutrition and Health
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• v.44 no.1
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• pp.5-15
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• 2011

Although iron is an essential mineral, excess iron intake during pregnancy may increase oxidative stress in tissues. This study was conducted to investigate the effects of iron overload during pregnancy on iron status and oxidative stress in maternal rats. Ten week-old female Sprague-Dawley rats were mated with male rats. Non-pregnant (control) and pregnant rats were fed diets containing normal Fe (35 mg/kg diet), high Fe (350 mg/kg diet), or excess Fe (1,050 mg/kg diet) during pregnancy. Rats were sacrificed on pregnancy day 19. No significant difference in weight gain, diet intake, or litter size was observed according to iron intake levels. Furthermore, serum iron, hemoglobin, and hematocrit were not different among the rats administered the three levels of Fe both in the control and pregnant groups. However, the iron levels were lower in pregnant rats than those in the control. The liver and spleen iron contents increased significantly in the excess Fe group. An increase in liver ferritin levels with increasing iron intake was observed. Protein carbonyl content, as a marker of oxidative stress, increased significantly in liver with increasing iron intake but not malondialdehyde. Glutathione peroxidase activity in the liver of pregnant rats fed excess iron decreased significantly. Bcl-2 protein expression in the liver declined remarkably with increasing maternal iron intake in pregnant rats. Taken together, iron overload during pregnancy had little effect on hematology. However, the deposits of iron in the liver and the decline in antioxidant enzyme activity implied increased oxidative stress in tissues of the excess Fe group. These results suggest that excess iron intake during pregnancy increases oxidative stress in maternal tissues and may also affect fetal tissues.

• BMB Reports
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• v.41 no.2
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• pp.153-157
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• 2008

The objective of the present study was to identify mitochondrial components associated with the damage caused by iron to the rat heart. Decreased cell viability was assessed by increased presence of lactate dehydrogenase (LDH) in serum. To assess the functional integrity of mitochondria, Reactive Oxygen Species (ROS), the Respiratory Control Ratio (RCR), ATP and chelatable iron content were measured in the heart. Chelatable iron increased 15-fold in the mitochondria and ROS increased by 59%. Deterioration of mitochondrial function in the presence of iron was demonstrated by low RCR (46% decrease) and low ATP content (96% decrease). Using two dimensional gel electrophoresis (2DE), we identified alterations in 21 mitochondrial proteins triggered by iron overload. Significantly, expression of the $\alpha$, $\beta$, and d subunits of $F_1F_o$ ATP synthase increased along with the loss of ATP. This suggests that the $F_1F_o$ ATP synthase participates in iron metabolism.

• Fisheries and Aquatic Sciences
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• v.7 no.1
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• pp.23-28
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• 2004

Olive flounder (Paralichthys olivaceus) was exposed to waterborne iron (0.1, 0.5, 1, 5 and 10 mg/L) for 50 days. The effects of iron on blood iron status and iron binding capacity were studied. The serum iron concentration was significantly higher than in the group exposed to iron (1, 5 and 10 mg/L) in comparison to the control after 30 days of exposure to iron. A significant decrease in unsaturated iron binding capacity was found between the control and the group exposed to iron (5 and 10 mg/L, respectively) at 40 and 50 days, respectively. The total iron binding capacity of serum in the fish exposed to iron concentrations (5 and 10 mg/L) showed a significant decrease compared to that of the control at 40 days after iron exposure. Serum iron saturation values increased in the flounder exposed to iron concentration (5 and 10 mg/L) at 50 days. Our data suggest that sub-lethal exposure of waterborne iron alters the blood iron concentration and iron binding capacity, and these parameters seems to be valuable factors for screening and diagnosis of iron overload syndromes in fish.

• Proceedings of the Korea Environmental Mutagen Society Conference
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• 2003.05a
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• pp.38-38
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• 2003