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

Adult ; Biomarkers ; blood ; Biopsy, Needle ; Ferritins ; blood ; Hemochromatosis ; blood ; diagnosis ; therapy ; Humans ; Jaundice ; blood ; diagnosis ; therapy ; Liver ; pathology ; Male ; Tomography, X-Ray Computed

A 16-yr-old male patient with hemochromatosis due to multiple packed red blood cell transfusions was referred to our emergency center for the treatment of severe aplastic anemia and dyspnea. He was diagnosed with aplastic anemia at 11-yr of age. He had received continuous transfusions because an HLA-matched marrow donor was unavailable. Following a continuous, approximately 5-yr transfusion, he was noted to develop hemochromatosis. He had a dilated cardiomyopathy and required diuretics and digitalis, multiple endocrine and liver dysfunction, generalized bleeding, and skin pigmentation. A total volume of red blood cell transfusion before deferoxamine therapy was about 96,000 mL. He received a regular iron chelation therapy (continuous intravenous infusion of deferoxamine, 50 mg/kg/day for 5 days q 3-4 weeks) for approximately seven years after the onset of multiple organ failures. His cytopenia and organ dysfunctions began to be gradually recovered since about 2002, following a 4-yr deferoxamine treatment. He showed completely normal ranges of peripheral blood cell counts, heart size, and liver function two years ago. He has not received any transfusions for the last four years. This finding suggests that a continuous deferoxamine infusion may play a role in the immune regulation in addition to iron chelation effect.
Adolescent ; Anemia, Aplastic/pathology/*therapy ; Chelation Therapy/*methods ; Deferoxamine/therapeutic use ; Erythrocyte Transfusion ; Hemochromatosis/*complications/therapy ; Humans ; Immune System ; Iron/*therapeutic use ; Iron Chelating Agents/therapeutic use ; Male ; Radiography, Thoracic/methods ; Time Factors ; Treatment Outcome

Hereditary hemolytic anemia is a very heterogeneous disorder in which abnormalities of red blood cell structural protein, globin protein, or enzyme defect lead to shortened life span. There has been much progress in revealing its pathophysiology and genetic backgrounds, but the lifelong plans for caring these patients are not well established yet. All patients with hereditary hemolytic anemic have three common problems: transfusion dependency, iron overload and iron chelation therapy. Patients with hereditary spherocytosis (HS) usually manifest severe anemia in neonatal period and infancy, but transfusion requirements may decrease in adulthood. But patients with thalassemia or sickle cell disease usually transfusion-dependent throughout life. Maintaining the optimal hemoglobin (Hb) levels in these patients is crucial because correction of anemia and dilution of abnormal Hb helps prevent certain complications that frequently occur in these patients. Frequent transfusion leads to transfusion-mediated infection and hemochromatosis. Iron chelation therapy should be started early to prevent permanent organ damage. Folate therapy can be helpful in patients with hereditary spherocytosis. Regular evaluations for cholestasis should be started at age 5, and splenectomy with concurrent cholecystectomy can be considered if the patient has cholecystitis. Hydroxyurea can be used to reduce transfusion requirements and prevent complications in patients with β-thalassemia and sickle cell disease. Consensus on long-term management of patients with hereditary hemolytic anemia is lacking, especially for adult patients. But further efforts to build guidelines for long-term follow-up and management of the patients with hereditary hemolytic anemia in the context of Korean society are needed.
Adult ; Anemia ; Anemia, Hemolytic, Congenital ; Anemia, Sickle Cell ; Chelation Therapy ; Cholecystectomy ; Cholecystitis ; Cholestasis ; Consensus ; Erythrocytes ; Folic Acid ; Follow-Up Studies ; Globins ; Hemochromatosis ; Humans ; Hydroxyurea ; Iron ; Iron Overload ; Splenectomy ; Thalassemia

A 39-year-old woman with end-stage renal disease, which was maintained on haemodialysis, developed secondary haemochromatosis after receiving blood transfusions and intravenous iron supplementation without sufficient serum ferritin concentration monitoring. The patient received intravenous deferoxamine three times a week, combined with high-dose recombinant human erythropoietin therapy and haemodialysis. After three months, improvements in biochemical indicators and iron overload were noted.
Adult ; Chelating Agents ; chemistry ; Erythropoietin ; therapeutic use ; Female ; Ferritins ; blood ; Hemochromatosis ; complications ; Hemoglobins ; analysis ; Humans ; Kidney Failure, Chronic ; complications ; therapy ; Recombinant Proteins ; therapeutic use ; Renal Dialysis ; adverse effects ; Sequence Analysis, DNA ; Tomography, X-Ray Computed ; Transferrin ; chemistry ; Transfusion Reaction ; Treatment Outcome