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Time-course analysis of serum hepcidin, iron and cytokines in a C282Y homozygous patient with Schnitzler’s syndrome treated with IL-1 receptor antagonist

open access: yesHaematologica, 2009
It is currently unknown if the increase of the hepatic iron regulatory hormone hepcidin during inflammation in man depends on an intact HFE-protein. Here we describe the temporal relationship of serum hepcidin, serum iron and cytokines in a patient with ...
Marcel van Deuren   +2 more
doaj   +1 more source

Molecular basis of the non-classical hereditary hemochromatosis in Portugal [PDF]

open access: yes, 2016
A Hemocromatose Hereditária (HH) é uma doença autossómica recessiva caracterizada pela absorção excessiva de ferro a nível intestinal e sua acumulação em órgãos vitais, podendo originar cardiomiopatia, cirrose e carcinoma hepatocelular.
Esteves, Jorge   +11 more
core  

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

open access: yesمجلة 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   +3 more
doaj   +1 more source

Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, Portugal [PDF]

open access: yes, 2012
Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis (HH) are two of the most fatal genetic disorders in adult life, affecting million individuals worldwide.
Barreto da Silva, Marta   +9 more
core  

Hemochromatosis and Heart Involvement

open access: yesАрхивъ 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   +3 more
doaj   +1 more source

Examining the Clinical Use of Hemochromatosis Genetic Testing

open access: yesCanadian Journal of Gastroenterology and Hepatology, 2015
BACKGROUND: Hereditary hemochromatosis leads to an increased lifetime risk for end-organ damage due to excess iron deposition. Guidelines recommend that genetic testing be performed in patients with clinical suspicion of iron overload accompanied by ...
Matthew B Lanktree   +5 more
doaj   +1 more source

HEREDITARY HEMOCHROMATOSIS: A RARE DISEASE OR A DIFFICULT DIAGNOSIS FOR A GENERAL PRACTITIONER?

open access: yesМедицина в Кузбассе
Hemochromatosis is a hereditary disease belonging to the group of storage diseases characterized by impaired iron metabolism with its pathological accumulation in vital organs, including the liver.
Александра Валерьевна Морозова   +2 more
doaj  

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

open access: yesJournal 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   +4 more
doaj   +1 more source

Hiperferitinemija u bolesnika s presatkom bubrega [PDF]

open access: yes, 2011
The principal iron storage protein is ferritin, which is primarily present in cytoplasm. The most common cause of hyperferritinemia is iron overload, which is either primary or secondary.
Ivana Jurić   +2 more
core   +1 more source

HLA and hemochromatosis disease association in São Miguel Island [PDF]

open access: yes, 2008
Mestrado em Biologia Molecular e CelularA hemocromatose hereditária uma doença autossómica recessiva do metabolismo do ferro, geralmente associada à mutação C282Y no gene HFE. Presume-se que a origem desta mutação tenha ocorrido por acaso no haplótipo
Gomes, Cidália Maria Teixeira
core   +1 more source

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