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and Non- Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.
Genet Test Mol Biomarkers
July 2024
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
The genetics of hereditary hemochromatosis (HH) is understudied in Iran. Here, we report the result of genetic screening of 854 individuals, referred as "suspected cases of HH," to a diagnostic laboratory in Iran over a 12-year period. From 2011 to 2012, 121 cases were screened for HH using Sanger sequencing of exons.
View Article and Find Full Text PDFLack of association of HFE gene polymorphism with high body iron status in Pakistani patients with type 2 diabetes mellitus.
J Pak Med Assoc
February 2021
Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.
Objective: The Aim of this study was to investigate the relationship of 3 common polymorphisms in the HFE gene (C282Y, H63D and S65C) with high body iron status in a population of Pakistani subjects with type 2 diabetes mellitus (DM) and to explore if there is any novel mutation in HFE gene in a sample of Pakistani subjects with type 2 DM.
Methods: In a case-control design, 200 healthy controls and 200 consecutive adult subjects with type 2 DM (both gender; age range of 30-70 years) were enrolled with informed consent. Their serum samples were analyzed for body iron status (ratio of concentration of soluble transferrin receptor to ferritin concentration).
H63D CG genotype of is associated with increased risk of sporadic amyotrophic lateral sclerosis in a single population.
J Integr Neurosci
September 2020
Department of Neurology, The Second Hospital of Hebei Medical University, West Heping Road 215, Shijiazhuang, Hebei, 050000, P. R. China.
This paper describes the genetic etiology of sporadic amyotrophic lateral sclerosis in a single population. Polymerase chain reaction-restriction fragment length polymorphism and DNA sample sequencing of 3 common gene variants (C282Y and H63D and S65C) were performed on 10 randomly selected samples of H63D gene variant (124 patients with sporadic amyotrophic lateral sclerosis) and 10 wild types of H63D samples (210 controls). The C282Y and S65C gene variant were absent.
View Article and Find Full Text PDFSerum hepcidin levels, iron status, and HFE gene alterations during the first year of life in healthy Spanish infants.
Ann Hematol
June 2018
Nutrition and Public Health Unit, Faculty of Medicine and Health Sciences, Research Group in Nutrition and Mental Health (NUTRISAM), Institut d'Investigació Sanitària Pere Virgili (IISPV), Universitat Rovira i Virgili, C/ Sant Llorenç 21, 43201, Reus, Spain.
The aims of this study were to describe hepcidin levels and to assess their associations with iron status and the main variants in the HFE gene in healthy and full-term newborns during the first year of life, as a longitudinal study conducted on 140 infants. Anthropometric and biochemical parameters, hepcidin, hemoglobin (Hb), serum ferritin (SF), transferrin saturation (TS), mean corpuscular volume (MCV), and C-reactive protein (CRP), were assessed in 6- and 12-month-olds. Infants were genotyped for the three main HFE variants: C282Y, H63D, and S65C.
View Article and Find Full Text PDFThe Effects of Polymorphisms on Biochemical Parameters of Iron Status in Arab Beta-Thalassemia Patients.
Indian J Hematol Blood Transfus
December 2017
Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, PO Box 31470, Sulaibekhat, Kuwait.
In this study, the potential effect of three gene polymorphisms (C282Y, H63D and S65C) and the A77D polymorphism on iron balance was investigated in 234 subjects (91 Arab beta-thalassemia major (BTM) patients, 34 beta-thalassemia trait (BTT) individuals and 109 health controls). Genotyping was done using restriction-fragment-length polymorphism and direct-sequencing. Serum-iron, total iron binding capacity, transferrin and ferritin were estimated in all BTT and BTM, and in 65 healthy controls.
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