Juvenile or type 2 hemochromatosis (JH) is a genetic disease caused by increased intestinal iron absorption that leads to early massive iron overload. The main form of the disease is caused by mutations in a still unknown gene on chromosome 1q. Recently, we recognized a second type of JH with clinical features identical to the 1q-linked form, caused by mutations in the gene encoding hepcidin (H...

BACKGROUND Frequent blood transfusion is often associated with iron overload. Proper use of iron chelators to treat iron overload requires an accurate measurement of iron levels. Magnetic resonance T2-star (T2* MRI) can measure iron level in the heart and liver. Our goal was to see whether an association exists between serum ferritin level and T2* MRI in patients with major beta thalassemia. ...

Thank you very much for your valuable comments and sharing your experience. We agree for your contribution. In thalassemia patients, several transplantation centers categorised risk factors prior to allogenic hematopoietic stem cell transplantation. Pesaro classification assigned patients to three arms according to the absence or presence of one, two or three risk factors: hepatomegaly > 2 cm, ...

Hemojuvelin (Hjv) is a membrane protein that controls body iron metabolism by enhancing signaling to hepcidin. Hjv mutations cause juvenile hemochromatosis, a disease of systemic iron overload. Excessive iron accumulation in the liver progressively leads to inflammation and disease, such as fibrosis, cirrhosis, or hepatocellular cancer. Fatty liver (steatosis) may also progress to inflammation ...

Transfusion-dependent anemia is a common feature in a wide array of hematological disorders, including thalassemia, sickle cell disease, aplastic anemia, myelofibrosis, and myelo-dysplastic syndromes. In the absence of a physiological mechanism to excrete excess iron, chronic transfusions ultimately cause iron overload. Without correction, iron overload can lead to end-organ damage, resulting i...

Steatosis hepatis functions as an inducer of hepatic iron metabolism dysregulation. MR two-point Dixon T1w imaging with subsequent comprehensive four-phase decomposition analysis facilitated not only metabolite decomposition of intrahepatic lipids and iron ions in steatosis hepatis and hepatic iron overload, but also allowed decomposition of metabolites in combined disease in an in-vivo patient...

Volume 41, January 2001 TRANSFUSION 123 Hemochromatosis occurs in approximately 1 in 200 white persons of Western European descent, and it increases the propensity to absorb excess iron. Iron overload associated with hemochromatosis can cause hepatic cirrhosis, primary liver cancer, arthropathy, diabetes mellitus, other endocrinopathic disorders, and a reduction in lifespan.1,2 These complicati...

Emerging clinical data indicate that transfusion-dependent patients with bone marrow-failure syndromes (BMFS) are at risk of the consequences of iron overload, including progressive damage to hepatic, endocrine, and cardiac organs. Despite the availability of deferoxamine (DFO) in Korea since 1998, data from patients with myelodysplastic syndromes, aplastic anemia, and other BMFS show significa...