Results 101 to 110 of about 113,339 (205)

HFE Gene Mutations as Predisposing Factors for Childhood Acute Lymphoblastic Leukaemia in Iraqi Patients

مجلة علوم ذي قار
Hemochromatosis is a prevalent hereditary disorder that causes excess iron to build up in the body to dangerous levels. Hereditary hemochromatosis, also known as HFE-related hemochromatosis is carried on by changes in the HFE gene.
Thanaa Kalil Ibrahim, Intisar Albandar, Shilan Jabbar, Raghda Khalid   +3 more
doaj   +1 more source

Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families

Haematologica, 2005
Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and ...
DF Wallace, JL Dixon, GA Ramm, GJ Anderson, LW Powell, N Subramaniam   +5 more
doaj  

Hemochromatosis and Heart Involvement

Архивъ внутренней медицины
Hemochromatosis is a life-threatening condition if left untreated, that is caused by excess iron in the body. It can be primary (hereditary) hemochromatosis, resulting from genes mutations, and secondary (acquired) as a result of excessive intake of iron
E. V. Reznik, M.H. E. Laouar, V. Yu. Voinova, G. N. Golukhov   +3 more
doaj   +1 more source

Characteristics of patients with hereditary hemochromatosis by genotype.

, 2015
Data are median (interquartile range) or percentage. NS: not significantCharacteristics of patients with hereditary hemochromatosis by genotype.
António Camacho (5662750), Thomas Funck-Brentano (329489), Martine Cohen-Solal (276930), Leonor Cancela (714583), Sébastien Ottaviani (714584), Márcio Simão (714582), Pascal Richette (714585)   +6 more
core   +1 more source

Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes

Haematologica, 2000
BACKGROUND AND OBJECTIVE: Most patients with hereditary hemochromatosis are homozygous for a Cys282AETyr mutation in the HFE gene. This mutation has been shown to impair the association of the HFE gene product with b(2)-microglobulin and to prevent its ...
S Parkkila, AK Parkkila, A Waheed, RS Britton, XY Zhou, RE Fleming, S Tomatsu, BR Bacon, WS Sly   +8 more
doaj  

Hemochromatosis

, 2000
The association of cirrhosis with diabetes mellitus and bronze skin pigmentation was first recognized more than a century ago, when the term hemochromatosis (HC) was given to the condition. Hereditary hemochromatosis, also previously described as genetic
Powell, Lawrie W., Powell, Laurie W., Yapp, Thomas R., Yapp, T R, Powell, L W   +4 more
core   +1 more source

Bronze Diabetes in Congenital Dyserythropoietic Anemia Type 2: A Case Report

Journal of Diabetology
Secondary diabetes is caused by endocrine, pancreatic or hereditary disorders or certain medications which affect insulin secretion or action or both.
Samuel Sathweek Rayapati, Varun Damle, Sengottuvel Kayalvizhi, Ranjit Unnikrishnan, Viswanathan Mohan   +4 more
doaj   +1 more source

Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia

, 2000
Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis.
A.L. Fracanzani, M. Sampietro, A. Scaccabarozzi, S.R. Fargion, L.V.C. Valenti, M.D. Cappellini, D. Soligo, C. Mariani, G. Fiorelli   +8 more
core   +2 more sources

Overview of Ankle Arthropathy in Hereditary Hemochromatosis. [PDF]

Med Sci (Basel), 2023
Calori S, Comisi C, Mascio A, Fulchignoni C, Pataia E, Maccauro G, Greco T, Perisano C.   +7 more
europepmc   +1 more source

Unconfirmed hereditary hemochromatosis presenting as decompensated cirrhosis with severe hyperbilirubinemia. [PDF]

J Family Med Prim Care
Machado MF, Huynh B, Brodie B, He M, Ferreiro F.   +4 more
europepmc   +1 more source