المؤلفون: Beyan, Cengiz, Beyan, Esin

مصطلحات موضوعية: Hfe Gene-Mutations, Iron Overload, Management, Diagnosis, Children, Impact

الوصف: [No Abstarct Available]

العلاقة: Cukurova Medical Journal; Diğer; https://doi.org/10.17826/cumj.418297Test; https://hdl.handle.net/20.500.14065/2988Test; 43; 330; 332; WOS:000445937400053

الإتاحة: https://doi.org/10.17826/cumj.418297Test
https://doi.org/20.500.14065/2988Test
https://hdl.handle.net/20.500.14065/2988Test

المؤلفون: Yunus Kasım Terzi, Tuğçe Bulakbaşı Balcı, Can Boğa, Zafer Koç, Zerrin Yılmaz Çelik, Hakan Özdoğu, Sema Karakuş, Feride İffet Şahin

المصدر: Turkish Journal of Hematology, Vol 33, Iss 4, Pp 320-325 (2016)

مصطلحات موضوعية: hemochromatosis, hfe gene, iron overload, p.c282y, p.h63d, sickle cell anemia, Diseases of the blood and blood-forming organs, RC633-647.5

الوصف: Objective: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE) p.H63D and p.C282Y mutations on transfusion-related cardiac and liver iron overload in sickle cell disease patients who carry homozygous hemoglobin S mutation has been investigated. Materials and Methods: This is a prospective single-center crosssectional study in patients with homozygous hemoglobin S mutation between the years 2008 and 2013. The patients were divided into two groups. The first group (group A, n=31) was receiving chelation therapy and the second group (group B, n=13) was not. Direct and indirect iron loads were analyzed by magnetic resonance imaging and biochemically, respectively. HFE gene mutations were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analyses were performed by independent samples t-test. Results: p.H63D mutation was detected in 10 (32.3%) patients in group A and in only 1 patient (7.7%) in group B. When the 2 groups were compared for iron overload, iron deposition in the liver was significantly higher in group B (p=0.046). In addition, in group A, iron deposition was significantly higher in HFE mutation carriers compared to patients without the mutation (p=0.05). Conclusion: Results of this study showed that HFE gene mutations are important in iron deposition in the liver in patients with sickle cell disease.

وصف الملف: electronic resource

العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-87533Test; https://doaj.org/toc/1308-5263Test

الوصول الحر: https://doaj.org/article/4e00c686b20146568782a01414689f4dTest

المؤلفون: Akar, Nejat, Çelik, Vesile Deniz, Kılıç, Betül Orhan, ArdıçoÄŸlu Akışın, Nazife Yasemin

مصطلحات موضوعية: Hemochromatosis, HFE gene mutation, Alpha globulin deletion

الوصف: Background Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)†(HFE) gene. Case The 16-year-old male patient was diagnosed with hereditary hemochromatosis after c.1007?47G>A heterozygous c.340+4?T>C heterozygous mutations were detected in HFE gene analysis after a suspicion of hemochromatosis due to increase of hemoglobin value from 14.8?g/dL to 16.8?g/dL and the level of ferritin from 68?ng/ml to 300?ng/ml in routine check-up controls in two-years period. In addition, due to low mean corpuscular volume (MCV) (76?fL), and mean corpuscular hemoglobin (MCH) (26?pg) levels, gene mutation analysis was carried out and the patient was also shown to carry ? thalassemia ?3.7 deletions. Conclusion Early diagnosis of hemochromatosis is important in terms of prognosis and morbidity. We aimed to emphasize that we can easily diagnose the disease by performing genetic analysis in cases with suspected hemochromatosis even they have no complaints.

العلاقة: Egyptian Journal of Medical Human Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; 110-8630; https://doi.org/10.1016/j.ejmhg.2018.06.001Test; https://hdl.handle.net/20.500.11851/3219Test; https://www.sciencedirect.com/science/article/pii/S1110863018300685Test; 19; 433; 435; 2-s2.0-85053318522; Q4

الإتاحة: https://doi.org/20.500.11851/321910.1016/j.ejmhg.2018.06.001Test
https://hdl.handle.net/20.500.11851/3219Test
https://www.sciencedirect.com/science/article/pii/S1110863018300685Test

المؤلفون: Basora J, Gimeno M, Coronel P, Pallejà M, Ruiz F, Fargas F, Serrat N, Aparicio E, Aranda N, Arija V, Vázquez LI

المساهمون: Universitat Rovira i Virgili

المصدر: Nutrients ; 10.3390/nu11102418 ; Nutrients. 11 (10)

مصطلحات موضوعية: Food Science,Nutrition & Dietetics,Nutrition and Dietetics, Stores, Serum ferritin, Risk, Randomized controlled trial, Questionnaire, Prophylaxis, Prevalence, Pregnancy, Outcomes, Iron supplementation, Iron stores, Iron status, Homeostasis, Hfe gene, Hemoglobin, Hemoconcentration, Consequences, Anemia, Zootecnia / recursos pesqueiros, Saúde coletiva, Química, Psicología, Planejamento urbano e regional / demografia, Nutrition and dietetics, Nutrition & dietetics, Nutrição, Medicina veterinaria, Medicina iii, Medicina ii

الوصف: © 2019 by the authors. Licensee MDPI, Basel, Switzerland. Iron deficiency (ID), anemia, iron deficiency anemia (IDA) and excess iron (hemoconcentration) harm maternal–fetal health. We evaluated the effectiveness of different doses of iron supplementation adjusted for the initial levels of hemoglobin (Hb) on maternal iron status and described some associated prenatal determinants. The ECLIPSES study included 791 women, randomized into two groups: Stratum 1 (Hb = 110–130g/L, received 40 or 80mg iron daily) and Stratum 2 (Hb > 130g/L, received 20 or 40mg iron daily). Clinical, biochemical, and genetic information was collected during pregnancy, as were lifestyle and sociodemographic characteristics. In Stratum 1, using 80 mg/d instead of 40 mg/d protected against ID on week 36. Only women with ID on week 12 benefited from the protection against anemia and IDA by increasing Hb levels. In Stratum 2, using 20 mg/d instead of 40 mg/d reduced the risk of hemoconcentration in women with initial serum ferritin (SF) ≥ 15 µg/L, while 40 mg/d improved SF levels on week 36 in women with ID in early pregnancy. Mutations in the HFE gene increased the risk of hemoconcentration. Iron supplementation should be adjusted to early pregnancy levels of Hb and iron stores. Mutations of the HFE gene should be evaluated in women with high Hb levels in early pregnancy.

العلاقة: http://hdl.handle.net/20.500.11797/imarina5918820Test

الإتاحة: https://doi.org/20.500.11797/imarina5918820Test
https://doi.org/10.3390/nu11102418Test
https://hdl.handle.net/20.500.11797/imarina5918820Test

المؤلفون: Lucía Iglesias Vázquez, Victoria Arija, Núria Aranda, Estefanía Aparicio, Núria Serrat, Francesc Fargas, Francisca Ruiz, Meritxell Pallejà, Pilar Coronel, Mercedes Gimeno, Josep Basora

المصدر: Nutrients; Volume 11; Issue 10; Pages: 2418

مصطلحات موضوعية: iron supplementation, pregnancy, randomized controlled trial, serum ferritin, hemoglobin, iron status, iron stores, HFE gene

جغرافية الموضوع: agris

الوصف: Iron deficiency (ID), anemia, iron deficiency anemia (IDA) and excess iron (hemoconcentration) harm maternal–fetal health. We evaluated the effectiveness of different doses of iron supplementation adjusted for the initial levels of hemoglobin (Hb) on maternal iron status and described some associated prenatal determinants. The ECLIPSES study included 791 women, randomized into two groups: Stratum 1 (Hb = 110–130g/L, received 40 or 80mg iron daily) and Stratum 2 (Hb > 130g/L, received 20 or 40mg iron daily). Clinical, biochemical, and genetic information was collected during pregnancy, as were lifestyle and sociodemographic characteristics. In Stratum 1, using 80 mg/d instead of 40 mg/d protected against ID on week 36. Only women with ID on week 12 benefited from the protection against anemia and IDA by increasing Hb levels. In Stratum 2, using 20 mg/d instead of 40 mg/d reduced the risk of hemoconcentration in women with initial serum ferritin (SF) ≥ 15 μg/L, while 40 mg/d improved SF levels on week 36 in women with ID in early pregnancy. Mutations in the HFE gene increased the risk of hemoconcentration. Iron supplementation should be adjusted to early pregnancy levels of Hb and iron stores. Mutations of the HFE gene should be evaluated in women with high Hb levels in early pregnancy.

وصف الملف: application/pdf

العلاقة: Nutrition and Public Health; https://dx.doi.org/10.3390/nu11102418Test

الإتاحة: https://doi.org/10.3390/nu11102418Test

المؤلفون: Diamandis, Carolina

مصطلحات موضوعية: adrenaline blocker, endocrinology, adrenaline inhibition, HFE gene H63D mutation, rare diseases, metabolic disorders, iron metabolism, adrenal gland dysfunction, stress axes

الوصف: Used by LCG Research since spring 2023. You will find our older work via Google Scholar, Zenodo, Authorea and many other sites and search engines.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1dc78485667ddf4732bb322c2c73198cTest

المؤلفون: Rodriguez, Libia M, Giraldo, Mabel C, Velasquez, Laura I, Alvarez, Cristiam M, Garcia, Luis F, Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos

المصدر: Genetics and Molecular Biology. March 2015 38(1)

مصطلحات موضوعية: hereditary hemochromatosis, HLA class I genes, HFE gene, H63D, C282Y

الوصف: A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D) mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis (“HH”) and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD) with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the Antioquia population, it is not associated with any particular HLA haplotype, whereas the C282Y mutation is associated with HLA-A*03-B*07, this supporting a northern Spaniard ancestry.

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100008Test

المؤلفون: A V Solov’eva, O V Kodyakova, I N Nikitina, N P Fomenko, D R Rakita

المصدر: Kazanskij Medicinskij Žurnal, Vol 99, Iss 6, Pp 998-1003 (2018)

مصطلحات موضوعية: hemochromatosis, HFE gene mutation, clinical case, Medicine

الوصف: The article presents a clinical case demonstrating the difficulties of timely diagnosis of hereditary hemochromatosis, presents data on modern diagnosis and approaches to the treatment of the disease according to existing clinical guidelines. The described clinical case of hereditary hemochromatosis is associated with a homozygous mutation of C282Y in HFE gene in a 58-year-old patient and his twin brother. Initially, signs of iron deposition in the liver were found on MRI of the abdominal cavity. In laboratory analyses, the patient was found to have an increased level of serum iron - 40 µmol/l and ferritin - 1340 ng/ml. Subsequently, the investigation of HFE gene mutations was carried out and a mutation of C282Y in homozygous form (genotype A/A) was found, which is a molecular genetic confirmation of hereditary hemochromatosis of type 1. At the same time, the patient's twin brother at the targeted examination had the serum iron level of 36 µmol/l, the ferritin level of 600 ng/ml, and also the mutation of HFE gene, the allelic variant of A/A. The results of liver fibroelastometry of the patient correlate with the degree of fibrosis F1 by Metavir scale. Timely started therapeutic phlebotomies led to improved clinical and laboratory parameters of iron metabolism while maintaining normal levels of red blood cells and hemoglobin.

العلاقة: https://kazanmedjournal.ru/kazanmedj/article/viewFile/10519/8331Test; https://doaj.org/toc/0368-4814Test; https://doaj.org/toc/2587-9359Test; https://doaj.org/article/fd49063219624a2fa5ef02bbda9c81efTest

الإتاحة: https://doi.org/10.17816/KMJ2018-998Test
https://doaj.org/article/fd49063219624a2fa5ef02bbda9c81efTest

المؤلفون: Francesca Mangialasche, Grégoria Kalpouzos, Goran Papenberg, Farshad Falahati, Erika J. Laukka

المصدر: Neuropsychopharmacology Reports

مصطلحات موضوعية: cognition, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Iron Overload, Genotype, brain, Iron, Transferrin receptor, blood, Internal medicine, medicine, Humans, Pharmacology (medical), H63D, Hemochromatosis Protein, Episodic memory, Pharmacology, chemistry.chemical_classification, Transferrin saturation, Working memory, business.industry, Putamen, aging, QSM, Histocompatibility Antigens Class I, Transferrin, nutritional and metabolic diseases, Membrane Proteins, Quantitative susceptibility mapping, Cognition, Original Articles, Psychiatry and Mental health, Clinical Psychology, Endocrinology, C282Y, chemistry, Original Article, business, HFE gene

الوصف: Background Brain iron overload is linked to brain deterioration, and cognitive and motor impairment in neurodegenerative disorders and normal aging. Mutations in the HFE gene are associated with iron dyshomeostasis and are risk factors for peripheral iron overload. However, links to brain iron load and cognition are less consistent and data are scarce. Aims and methods Using quantitative susceptibility mapping with magnetic resonance imaging, we investigated whether C282Y and H63D contributed to aging‐related increases in brain iron load and lower cognitive and motor performance in 208 healthy individuals aged 20‐79 years. We also assessed the modulatory effects of HFE mutations on associations between performance and brain iron load, as well as peripheral iron metabolism. Results Independent of age, carriers of either C282Y and/or H63D (HFE‐pos group, n = 66) showed a higher load of iron in putamen than non‐carriers (HFE‐neg group, n = 142), as well as higher transferrin saturation and lower transferrin and transferrin receptors in blood. In the HFE‐neg group, higher putaminal iron was associated with lower working memory. In the HFE‐pos group, higher putaminal iron was instead linked to higher executive function, and lower plasma transferrin was related to higher episodic memory. Iron‐performance associations were modest albeit reliable. Conclusion Our findings suggest that HFE status is characterized by higher regional brain iron load across adulthood, and support the presence of a modulatory effect of HFE status on the relationships between iron load and cognition. Future studies in healthy individuals are needed to confirm the reported patterns.
This study investigated the contribution of genetic polymorphisms in the HFE gene (C282Y and H63D) on blood and brain iron load, and their relationships with cognition, in a healthy sample of adults. The findings indicated that carriers of C282Y and/or H63D displayed higher iron load in putamen and higher transferrin saturation in blood. Results further suggested that in carriers, higher iron load may be beneficial for cognitive performance, independent of age.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e59d4a6982203902af590bd83526fcdfTest
http://europepmc.org/articles/PMC8411306Test

المؤلفون: Agustin Castiella, Eva Zapata, Leire Zubiaurre, Jose Ma. Alustiza, Ma. Dolores De Juan, Arantxa Iribarren, Jose I. Emparanza, Pedro Otazua

المصدر: Annals of Hepatology, Vol 14, Iss 3, Pp 333-339 (2015)

مصطلحات موضوعية: Hyperferritinemia, HFE gene, Hemochromatosis, MRI, Metabolic syndrome, Specialties of internal medicine, RC581-951

الوصف: Background and Aims. There are limited data on clinical and phenotypic characteristics of outpatients referred for hyperferritinemia (HF). To determine the causes of HF in outpatients referred to a secondary hospital.Material and methods. A prospective study of 132 consecutive patients with HF (> 200 μg/L, women; > 300 μg/L, men) was conducted from January-December 2010.Results. Mean age, 54.42 years (SD: 13.47, range: 23-83); body mass index (BMI), 28.80 (SD: 3.96, 17-39); ferritin (SF), 579.54 ng/mL (SD: 296.575, 206-1668); transferrin saturation (TSI), 43.87% (SD: 14.09, 12-95); iron (Fe), 134 μg/dL (SD: 49.68, 55-322); overweight: 48.31%, and obese: 40.44% (89%), and most patients were men (108/132). Regarding HFE mutations, H63D/H63D genotype and H63D allele frequencies were 17.5% (vs. 7.76% in controls); and 36% (31% in controls) respectively. While 63.6% consumed no alcohol, 18.1% consumed ≥ 60 g/day, the mean being 20.83 (SD: 33.95, 0-140). Overall, 6/132 (4.5%) patients were positive for B or C hepatitis. Mean LIC by MRI was 36.04 (SD: 32.78, 5-210), 53 patients having normal concentrations (< 36 µmol/g), 22 (33%) iron overload (37-80), and 4 (5%) high iron overload (> 80). Metabolic syndrome (MS) was detected in 44/80 men (55%) and 10/17 women (59%). In this group, the genotype frequency of the H63D/H63D mutation was significantly higher than in controls-21.56% vs. 7.76%- (p = 0.011); the H63D allelic frequency was 42.15% in MS group and 31% in controls (p = 0.027).Conclusion. The H63D/H63D genotype and H63D allele predispose individuals to HF and MS. MRI revealed iron overload in 33% of patients.

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1665268119312724Test; https://doaj.org/toc/1665-2681Test

الوصول الحر: https://doaj.org/article/b8b37b4c2fcf4cb4893c961953ec2da4Test