Publications by authors named "Barbara Butzeck"
Background: Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically heterogeneous disorder characterized by chronic iron overload that can ultimately lead to multiple organ dysfunction. Clinical diagnosis remains challenging due to the nonspecificity of symptoms and a lack of confirmatory genotyping in a substantial proportion of patients.
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- Hereditary hemochromatosis (HH) is an inherited condition that causes iron overload in vital organs, leading to various health issues and is also associated with immune system defects.
- A study compared the immune cell function of 21 HH patients to 21 healthy individuals, focusing on Natural Killer (NK) cells, finding increased production of pro-inflammatory cytokines in HH patients.
- Despite the elevated cytokine levels, NK cell characteristics remained largely unchanged, and there was a decrease in granulocyte numbers, indicating that regular blood removal treatments for HH are effective in managing the condition without severely impacting NK cell function.
Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training.
View Article and Find Full Text PDFObjective: To explore hereditary haemochromatosis (HH) patients' perspectives on genetic information, namely the types of sources used, preferred or trusted.
Methods: A survey online was conducted by the European Federation of Associations of Patients with Haemochromatosis (EFAPH) and applied to members of nine National Associations.
Results: From a total of 1019 validated questionnaires, 895 respondents had performed a genetic testing for HH.
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.
Aims: To determine the clinical presentations in patients with homozygous HFE C282Y mutation and the impact of genetic testing on the time needed for diagnosis.