Rare causes of hereditary iron overload

P Ponka - Seminars in hematology, 2002 - Elsevier
Iron is a vitally important element in mammalian metabolism because of its unsurpassed
versatility as a biologic catalyst. However, when not appropriately shielded or when present …

Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features

RL Sham, PD Phatak, C West, P Lee, C Andrews… - Blood Cells, Molecules …, 2005 - Elsevier
Hereditary hemochromatosis is a common disorder of iron metabolism most frequently
associated with mutations in the HFE gene. Hereditary hemochromatosis may be caused by …

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

DF Wallace, P Pedersen, JL Dixon… - Blood, The Journal …, 2002 - ashpublications.org
Hemochromatosis is a common disorder characterized by excess iron absorption and
accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal …

Inherited iron loading: genetic testing in diagnosis and management

M Worwood - Blood reviews, 2005 - Elsevier
Elucidation of the molecular pathways of iron transport through cells and its control is
leading to an understanding of genetic iron loading conditions. The general phenotype of …

[HTML][HTML] Non-HFE haemochromatosis

DF Wallace, VN Subramaniam - World journal of gastroenterology …, 2007 - ncbi.nlm.nih.gov
Non-HFE hereditary haemochromatosis (HH) refers to a genetically heterogeneous group of
iron overload disorders that are unlinked to mutations in the HFE gene. The four main types …

Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding

RE Fleming, WS Sly - The Journal of Clinical Investigation, 2001 - Am Soc Clin Investig
Ferroportin1 in absorption of dietary iron (a) and release of iron stores (b).(a) Dietary
nonheme iron at the luminal surface of the villus enterocyte is reduced by ferric reductase …

Functional consequences of ferroportin 1 mutations

XB Liu, F Yang, DJ Haile - Blood Cells, Molecules, and Diseases, 2005 - Elsevier
The cellular iron exporter ferroportin 1 is expressed in both the duodenum and in cells of the
mononuclear phagocyte system. Expression of ferroportin 1 protein on the cell surface is …

[PDF][PDF] Novel genes, proteins, and inherited disorders of iron overload: iron metabolism is less boring than thought

M Cazzola - Haematologica, 2002 - haematologica.org
The availability of molecular tools for studying HFE mutations has allowed investigators to
identify novel forms of non-HFE related genetic hemochromatosis (GH). Fifteen years ago …

Molecular basis of hereditary iron homeostasis defects

M Horvathova, P Ponka, V Divoky - Hematology, 2010 - Taylor & Francis
Iron is a trace element that is vital for life. It is a component of innumerable hemoproteins
and many essential non-heme iron proteins that are involved in oxygen binding and …

Hereditary iron overload: update on pathophysiology, diagnosis, and treatment

M Franchini - American journal of hematology, 2006 - Wiley Online Library
Hereditary hemochromatosis, a very common genetic defect in the Caucasian population, is
characterized by progressive tissue iron overload which leads to irreversible organ damage …