Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics
OT Njajou, G de Jong, B Berghuis, N Vaessen… - Blood Cells, Molecules …, 2002 - Elsevier
Hereditary hemochromatosis is classically inherited as a recessive trait but is genetically
heterogeneous. Mutations in the HFE and the TFR2 genes account for about 80% of patients
and a third locus on chromosome 1q is responsible for juvenile hemochromatosis. We
describe here the clinical and biological characteristics of autosomal dominant form of iron
overload due to the N144H mutation of the SLC11A3 gene. Clinical signs of iron overload in
patients include joint pains, cardiomyopathies, liver fibrosis and hormonal disorders …
heterogeneous. Mutations in the HFE and the TFR2 genes account for about 80% of patients
and a third locus on chromosome 1q is responsible for juvenile hemochromatosis. We
describe here the clinical and biological characteristics of autosomal dominant form of iron
overload due to the N144H mutation of the SLC11A3 gene. Clinical signs of iron overload in
patients include joint pains, cardiomyopathies, liver fibrosis and hormonal disorders …