Results 81 to 90 of about 28,106 (200)

Elevated Serum Transaminase as a Presenting Clue for Precirrhotic Hemochromatosis [PDF]

, 1984
For patients in whom unexplained elevations in SGOT and SGPT concentrations are found, determination of the serum iron level is recommended to screen for asymptomatic precirrhotic hemochromatosis.
Kobylak, Lester P.
core   +1 more source

IgG subclass levels in referred hemochromatosis probands with HFE p.C282Y/p.C282Y.

PLoS ONE
BackgroundIgG subclass levels in hemochromatosis are incompletely characterized.MethodsWe characterized IgG subclass levels of referred hemochromatosis probands with HFE p.C282Y/p.C282Y (rs1800562) and human leukocyte antigen (HLA)-A and -B typing ...
James C Barton, J Clayborn Barton, Luigi F Bertoli, Ronald T Acton   +3 more
doaj   +1 more source

Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin

Haematologica, 2000
Juvenile hemochromatosis is a rare genetic disorder that causes iron overload. Clinical complications, which include liver cirrhosis, heart failure, hypogonadotropic hypogonadism and diabetes, appear earlier and are more severe than in HFE-related ...
M De Gobbi, P Pasquero, F Brunello, P Paccotti, U Mazza, C Camaschella   +5 more
doaj  

Diagnosis of hereditary hemochromatosis in the era of genetic testing

, 2012
Background Homozygous C282Y mutation in HFE gene is responsible for the majority of hereditary hemochromatosis cases. Since 1996 this mutation can be identified by a simple genetic test.
Stuhrmann, Manfred, Butzeck, Barbara, Krayenbuehl, Pierre A, Trieß, Christiane, Kulaksiz, Hasan, von Figura, Guido, Strnad, Pavel   +6 more
core   +1 more source

The oral ferroportin inhibitor vamifeport prevents liver iron overload in a mouse model of hemochromatosis

HemaSphere
Hemochromatosis is an inherited iron overload condition caused by mutations that reduce the levels of the iron‐regulatory hormone hepcidin or its binding to ferroportin.
Naja Nyffenegger, Anna Flace, Ahmet Varol, Patrick Altermatt, Cédric Doucerain, Hanna Sundstrom, Franz Dürrenberger, Vania Manolova   +7 more
doaj   +1 more source

A Case of Hemochromatosis

, 2008
Hemochromatosis is a disorder of iron metabolism leading to irreversible damage to various organs due to progressive tissue iron overload. It is characterized by liver cirrhosis, heart failure, diabetes and skin pigmentation.
Kim, So Young, Choi, Yoo Won, Myung, Ki Bum, Oh, Ji Eun, Sung, Yeon Ah, Choi, Hae Young, Lim, Ji-Youn   +6 more
core   +1 more source

Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis

Haematologica, 2005
BACKGROUND AND OBJECTIVES: The low prevalence of the C282Y mutation of the HFE gene in Japan means that the genetic background of hemochromatosis in Japanese patients remains unclear. In a previous report, we showed that 3 patients from one family had an
C Koyama, S Wakusawa, H Hayashi, R Suzuki, M Yano, K Yoshioka, M Kozuru, Y Takayamam, T Okada, H Mabuchi   +9 more
doaj  

A case of hemochromatosis

, 2018
Hemochromatosis is a disorder of iron metabolism leading to irreversible damage to various organs due to progressive tissue iron overload. It is characterized by liver cirrhosis, heart failure, diabetes and skin pigmentation.
최유원, 성연아, 명기범, 최혜영   +3 more
core   +1 more source

Iron overload in porphyria cutanea tarda

Haematologica, 1999
BACKGROUND AND OBJECTIVE: Porphyria cutanea tarda (PCT) is a disorder of porphyrin metabolism associated with decreased activity of uroporphyrinogen decarboxylase (URO-D) in the liver. The relevance of iron in the pathogenesis of PCT is well established:
M Sampietro, G Fiorelli, S Fargion
doaj  

Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece

Haematologica, 2004
Mutations of the HJV gene, which maps on chromosome 1q21, underlie most cases of juvenile hemochromatosis. We evaluated the frequency of the most common mutation (G320V) of the HJV gene in the Greek population, since 50% of cases of hereditary ...
M Pissia, K Polonifi, M Politou, K Lilakos, N Sakellaropoulos, G Papanikolaou   +5 more
doaj