Cargando…

Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients

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...

Descripción completa

Detalles Bibliográficos
Autores principales:	Terzi, Yunus Kasım, Bulakbaşı Balcı, Tuğçe, Boğa, Can, Koç, Zafer, Yılmaz Çelik, Zerrin, Özdoğu, Hakan, Karakuş, Sema, Şahin, Feride İffet
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5204187/ https://www.ncbi.nlm.nih.gov/pubmed/27095682 http://dx.doi.org/10.4274/tjh.2015.0254

Ejemplares similares

Diagnosis of Variant Klinefelter Syndrome in a 21-Year-Old Male Who Presented with Sparse Facial Hair
por: Purnak, Seda, et al.
Publicado: (2012)

Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major
por: Yasri, Sora
Publicado: (2019)

The impact of developmental genes in non-syndromic cleft lip and/or palate
por: Şahin Uysal, Nihal, et al.
Publicado: (2023)

Non-alcoholic fatty liver disease in hemochromatosis probands with iron overload and HFE p.C282Y/p.C282Y
por: Barton, James C., et al.
Publicado: (2023)

Iron overload phenotypes and HFE genotypes in white hemochromatosis and iron overload screening study participants without HFE p.C282Y/p.C282Y
por: Barton, James C., et al.
Publicado: (2022)

Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan
por: Sharif, Yasir, et al.
Publicado: (2019)

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network
por: Gallego, Carlos J., et al.
Publicado: (2015)

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
por: Adams, Paul, et al.
Publicado: (2018)

HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity
por: Barton, James C., et al.
Publicado: (2022)

Educational Case: Iron Overload and Hemochromatosis
por: Borowitz, Michael J., et al.
Publicado: (2018)

Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis
por: Camacho, António, et al.
Publicado: (2015)

Total blood lymphocyte counts in hemochromatosis probands with HFE C282Y homozygosity: relationship to severity of iron overload and HLA-A and -B alleles and haplotypes
por: Barton, James C, et al.
Publicado: (2005)

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay
por: Cukjati, Marko, et al.
Publicado: (2007)

C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease
por: Hasan, S M Mahmudul, et al.
Publicado: (2022)

Dysmetabolic Hyperferritinemia: All Iron Overload Is Not Hemochromatosis
por: Makker, Jasbir, et al.
Publicado: (2015)

Hepatic Iron Overload following Liver Transplantation from a C282Y/H63D Compound Heterozygous Donor
por: Veitsman, E., et al.
Publicado: (2018)

Autoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity and Their First-Degree Relatives
por: Barton, James C., et al.
Publicado: (2015)

In vivo adenine base editing reverts C282Y and improves iron metabolism in hemochromatosis mice
por: Rovai, Alice, et al.
Publicado: (2022)

Thrombosis and risk factors: A comment
por: Toprak, Selami Koçak, et al.
Publicado: (2012)

A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload
por: Cruz, Eugénia, et al.
Publicado: (2006)

HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.
por: Lee, J. Y., et al.
Publicado: (2000)

HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama
por: Barton, James C, et al.
Publicado: (2002)

The Role of Heredity and the Prevalence of Strabismus in Families with Accommodative, Partial Accommodative, and Infantile Esotropia
por: Çorak Eroğlu, Fatma, et al.
Publicado: (2020)

Hematopoietic Stem Cell Transplantation in Adult Sickle Cell Disease: Problems and Solutions
por: Özdoğu, Hakan, et al.
Publicado: (2015)

Effect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands with HFE C282Y homozygosity
por: Barton, James C, et al.
Publicado: (2006)

Clinical Penetrance of Hereditary Hemochromatosis-Related End-Organ Damage of C282Y Homozygosity, A Newfoundland Experience
por: Lim, Dennis R., et al.
Publicado: (2020)

A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determination of Contamination
por: OGOUMA-AWORET, Ludmilla, et al.
Publicado: (2020)

Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis
por: Savatt, Juliann M., et al.
Publicado: (2023)

Blastoid Variant Mantle Cell Lymphoma with Complex Karyotype Including 11q Duplication
por: Özer, Özge, et al.
Publicado: (2014)

Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox
por: Lescano, Manuel A, et al.
Publicado: (2017)

Leukocyte telomere length is associated with iron overload in male adults with hereditary hemochromatosis
por: Martín, Maximilino, et al.
Publicado: (2020)

Dietary Iron Overload and Hfe(−/−) Related Hemochromatosis Alter Hepatic Mitochondrial Function
por: Fischer, Christine, et al.
Publicado: (2021)

Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses
por: Lawless, Matthew W, et al.
Publicado: (2007)

Abdominal pain and cirrhosis at diagnosis of hemochromatosis: Analysis of 219 referred probands with HFE p.C282Y homozygosity and a literature review
por: Barton, James C., et al.
Publicado: (2021)

Effect of standard phlebotomy on myocardial and hepatic iron levels in newly diagnosed cardiac asymptomatic hereditary hemochromatosis subjects with C282Y homozygosity
por: Shizukuda, Yukitaka, et al.
Publicado: (2023)

New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia
por: Liu, Jing, et al.
Publicado: (2019)

Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload
por: de Campos, Wagner Narciso, et al.
Publicado: (2019)

Iron overload exacerbates age-associated cardiac hypertrophy in a mouse model of hemochromatosis
por: Sukumaran, Abitha, et al.
Publicado: (2017)

Despite Genetic Iron Overload, Hfe‐Hemochromatosis Mice Do Not Show Bone Loss
por: Wagner, Alessa, et al.
Publicado: (2019)

Percutaneous Vertebroplasty for Osteoporotic Vertebral Fracture in a Patient with Sickle Cell Disease
por: Yeral, Mahmut, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_8h7l9s3t9ol48gsa9r9m63r3mb