non hfe-related hemochromatosis; a case report from iran

Non-HFE hemochromatosis.

Non-HFE hemochromatosis

Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV,...

Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.

Rare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism biology and molecular mechanisms led to the discovery of new genes and subsequently, new types of hemochroma...

Diabetes in HFE Hemochromatosis

Diabetes in whites of European descent with hemochromatosis was first attributed to pancreatic siderosis. Later observations revealed that the pathogenesis of diabetes in HFE hemochromatosis is multifactorial and its clinical manifestations are heterogeneous. Increased type 2 diabetes risk in HFE hemochromatosis is associated with one or more factors, including abnormal iron homeostasis and iro...

Hemochromatosis − A Case Report −

From the Department of Dermatology, Kaohsiung Medical University and Armed Forces Tso-Ying Hospital Accepted for publication: August 23, 2004 Reprint requests: Gwo-Shing Chen, M.D., Department of Dermatology, Kaohsiung Medical University. No.100, Shih-Chuan 1st Rd., Kaohsiung, Taiwan, R.O.C. TEL: 886-7-3208214 FAX: 886-7-3216580 Hemochromatosis is a disorder of chronic iron overload associated ...

Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis

Katrina J. Allen, M.D., Ph.D., Lyle C. Gurrin, Ph.D., Clare C. Constantine, Ph.D., Nicholas J. Osborne, Ph.D., Martin B. Delatycki, M.D., Ph.D., Amanda J. Nicoll, M.D., Ph.D., Christine E. McLaren, Ph.D., Melanie Bahlo, Ph.D., Amy E. Nisselle, B.Sc., Chris D. Vulpe, M.D., Ph.D., Gregory J. Anderson, Ph.D., Melissa C. Southey, Ph.D., Graham G. Giles, Ph.D., Dallas R. English, Ph.D., John L. Hopp...