BACKGROUND: This study was carried out to evaluate the efficacy of desferrioxamine as a chelating agent in iron overloaded patients with severe aplastic anemia due to multiple transfusion. METHODS AND MATERIALS: From Oct. 1995 to Aug. 1996, 15 patients with aplastic anemia, diagnosed from May 1995 to Jan. 1996 at St. Mary's Hospital, who had a transfusional hemosiderosis were included in this study. They received 19 courses of high-dose desfer-rioxamine therapy for 6 days(20 to 30 mg/kg daily as a 24-hour intravenous infusion) . Before and after treatment, we measured serum ferritin, iron, TIBC, 24-hour urinary excretion of iron. RESULTS: 1) The range of iron load before treatment was between 4.5 and 20.0 gram. 2) Because of limit of detection(1,800 microgram/L), it was difficult to compare the changes of serum ferritin level after therapy to those of before therapy. 3) There was no significant differences between the levels of serum iron before and after therapy(214.3+/-62.8 vs 220.0+/-53.3). And there was no significant differences between TIBC before and after therapy(235.8+/-64.6 vs 259.4+/-60.1). 4) Iron/TIBC ratios were significantly deceased after desferrioxamine treatment compared to those of before therapy(0.90+/-0.04 vs 0.85+/-0.04, P<0.001) and mean urinary excretions of iron were increased by high-dose desferrioxamine compared to those by test dose(6.5+/-7.6 vs 29.1+/-14.3, P<0.001) CONCLUSION: High-dose desferrioxamine therapy is very effective for chelating and excretion of iron in iron overloaded patients with severe aplastic anemia due to multiple transfusion. A repeat administration of desferrioxamine is necessary for the iron overloaded patient to eliminate the risk of a transfusional hemosidersis.
Anemia, Aplastic* ; Deferoxamine* ; Ferritins ; Hemosiderosis* ; Humans ; Iron ; Iron Overload

Background and Objectives: Iron is an essential element that plays a vital role in a wide variety of cellular processes. But when present in excess concentration in organs, it may increase the risk for liver disease, heart failure, and diabetes. Recently, siderophores, which are iron-chelating agents produced by microorganisms, have attracted tremendous attention because of their strong binding and high selectivity to the ferric form of iron. Thus, the use of siderophore in sequestering excess iron in the body as a form of therapy is very attractive. This study determined the effects of commercially available siderophore in sequestering excess iron in organs such as liver, heart, and pancreas under excess iron conditions. Methodology: First, iron-overload was induced by injecting iron dextran (20 mg) into male ICR mice for three consecutive days. The effects of iron to the liver, heart, and pancreas and the possible sequestration by siderophore were determined by scoring histological sections. The liver iron concentration was also assessed by atomic absorption spectroscopy (AAS). Results and Conclusion The study showed that iron-overloaded mice exhibited skin hyperpigmentation and hemosiderosis in liver, heart, and pancreas. Significant changes in the liver include hepatomegaly and development of tumor. Iron-overloaded mice had 2,935% increase in liver iron content compared to the salinetreated mice. However, when iron-overloaded mice were treated with either 100 µg or 200 µg siderophore, there was a 77% and 84% decrease in liver iron content, respectively. Moreover, the treatment of ironoverloaded mice with siderophore prevented the development of hemosiderosis, tumor, and structural changes in the tissues studied. The results showed that siderophore can effectively reduce excess iron and organ damage in iron-overloaded mice and can be potentially employed in chelation therapy of iron-overload diseases. Further studies on the possible mechanisms of siderophore aside from decreasing iron excess and lowering organ dysfunction are recommended.
Siderophores ; Iron Overload ; Iron Chelating Agents ; Hemosiderosis ; Hepatomegaly

Hemochromatosis ; metabolism ; Humans ; Iron Overload ; Liver ; metabolism ; Male ; Middle Aged

Hemochromatosis is a disorder caused by excessive iron deposition in parenchymal cells that leads to cellular damage and organ dysfunction. The excessive iron overload of secondary hemochromatosis is associated with chronic disorders of erythropoiesis that are treated with prolonged repeated blood transfusions. We experienced two cases of transfusional hemochromatosis involving the pituitary gland, and we report the findings of the MR imaging.
Blood Transfusion ; Erythropoiesis ; Hemochromatosis* ; Humans ; Iron ; Iron Overload ; Magnetic Resonance Imaging* ; Pituitary Gland*

OBJECTIVE: The explore the molecular basis of iron-overload in Tibet nationality population of Tibet. METHODS: The inpatients with iron-overload in our department from Dec. 1st 2014 to Jul.31st 2016 were enrolled in this study. Abdominal MRI and the mutation sites C282Y and H63D in HFE exon were examined. For HFE mutation-negative patients, the non-HFE mutation was detected, including 5 HJV mutations of G320V, p.Q312X, p.D249H, p.I281T, p.C321X and 2 TFR2 mutations: (Y250X, I238M), and 2 SLC40A1 mutations: (V162del, N144H). RESULTS: Among 113 iron overload patients, only one showed homozygous p.H63D mutation, and one showed heterozygosis p.H63D mutation. In 73 patients accepted non-HFE gene detection, only one was heterozygosis p.D249N mutation in HJV, and one was heterozygosis p.I238M mutation in TFR2. CONCLUSION Currently, the pathogenic gene for Tibetan iron-overload has not yet been found.
Genotype ; Hemochromatosis Protein ; Histocompatibility Antigens Class I ; Humans ; Iron Overload ; Mutation ; Tibet

Hemochromatosis is almost always a consequence of treatment for anemia in long term hemodialysis patients who have undergone frequent blood transfusions and iron therapy. Clinically, iron overload may be a serious problem for some maintenance hemodialysis patients and it may be manifested as organ dysfunctions. So, it is important to diagnose iron overload early and restrict blood transfusions and the administration of iron agents in these patients. We recently experienced one case of suspected primary hemochromatosis in a long term hemodialysis patient, and we evaluated the patient by checking the serum ferritin level and performing liver biopsy. Treatment with desferrioxamine was started with recombinant erythropoietin. We report on this case with a brief review of the literature.
Anemia ; Biopsy ; Blood Transfusion ; Deferoxamine ; Erythropoietin ; Ferritins ; Hemochromatosis* ; Humans ; Iron ; Iron Overload ; Kidney Failure, Chronic* ; Liver ; Renal Dialysis

Deferasirox is a once-daily, oral iron-chelating agent that is now widely available for the treatment of transfusional hemosiderosis. Deferasirox represents a significant advance in the treatment of iron overload, as the availability of an effective oral therapy has the potential to relieve many patients from the burden of frequent parenteral therapy with the previous reference standard iron chelator, deferoxamine. The well-known drug-related adverse events associated with deferasirox include gastrointestinal disturbances, rash, elevations in liver enzyme levels, and mild increases in serum creatinine levels, but acute renal failure is not common. The authors report a case of acute tubulointerstitial nephritis induced by deferasirox following hematopoietic stem cell transplantation for severe aplastic anemia
Acute Kidney Injury ; Anemia, Aplastic ; Benzoates ; Creatinine ; Deferoxamine ; Exanthema ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Hemosiderosis ; Humans ; Iron ; Iron Overload ; Liver ; Nephritis ; Nephritis, Interstitial ; Triazoles

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.
Adolescent ; Brain ; Central Nervous System ; Choroid Plexus ; Choroid ; Hemosiderin ; Hemosiderosis ; Humans ; Iron Overload ; Iron ; Magnetic Resonance Imaging ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma

Bone Marrow ; Hematopoiesis ; Humans ; Iron Overload

Haemochromatosis is characterised by elevated transferrin saturation (TSAT) and progressive iron loading that mainly affects the liver. Early diagnosis and treatment by phlebotomy can prevent cirrhosis, hepatocellular carcinoma, diabetes, arthropathy and other complications. In patients homozygous for p.Cys282Tyr in HFE, provisional iron overload based on serum iron parameters (TSAT >45% and ferritin >200 μg/L in females and TSAT >50% and ferritin >300 μg/L in males and postmenopausal women) is sufficient to diagnose haemochromatosis. In patients with high TSAT and elevated ferritin but other HFE genotypes, diagnosis requires the presence of hepatic iron overload on MRI or liver biopsy. The stage of liver fibrosis and other end-organ damage should be carefully assessed at diagnosis because they determine disease management. Patients with advanced fibrosis should be included in a screening programme for hepatocellular carcinoma. Treatment targets for phlebotomy are ferritin <50 μg/L during the induction phase and <100 μg/L during the maintenance phase.
Male ; Humans ; Female ; Hemochromatosis/therapy* ; Hemochromatosis Protein/genetics* ; Carcinoma, Hepatocellular/complications* ; Iron Overload/genetics* ; Ferritins ; Liver Cirrhosis/complications* ; Iron ; Fibrosis ; Liver Neoplasms/complications* ; Transferrins