This study was conducted to find out C282Y gene mutation for hereditary
hemochromatosis (HH) which is an autosomal recessive disorder, damaging multiple organs due to excess deposition of iron and most commonly caused by mutation of HFE gene like C282Y and H63D19.
Portal hypertension and iron depletion in patients with genetic
hemochromatosis. Hepatology 1995; 22: 1127-31.
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary
hemochromatosis (HH).
Strong arguments against this hypothesis were presented in early 2000s, with claims that if HH is due to an intestinal defect, liver transplantation would not cure the
hemochromatosis and iron would be expected to reaccumulate [10].
The Correlation of Cardiac and Hepatic Hemosiderosis as Measured by T2*MRI Technique with Ferritin Levels and
Hemochromatosis Gene Mutations in Iranian Beta-Thalassemia Major Patients.
During the latter third of the 20th century, the development of methods to measure serum iron, transferrin saturation (TS), and serum ferritin (SF) and the increased use of liver biopsy facilitated diagnosis of
hemochromatosis phenotypes.
Currently, however, the treatment of
hemochromatosis whether genetic or acquired is serial phlebotomies continuing until the ferritin is less than 50 ng/mL and iron saturation is less than 50%.
Sly, "Mechanisms of iron accumulation in hereditary
hemochromatosis," Annual Review of Physiology, vol.
Whitington, "Neonatal
hemochromatosis: management, outcome, and prevention," Prenatal Diagnosis, vol.
In the previously published studies performed on adult
hemochromatosis patients, the lower cardiorespiratory fitness and disturbance in iron metabolism were observed [14].
* The report provides a snapshot of the global therapeutic landscape of
HemochromatosisHepcidin deficiency causes hereditary
hemochromatosis, characterized by body iron overload that may progress to liver cirrhosis.
