Research Article

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Functional enrichment analysis; Hereditary hemochromatosis; Iron overload; Module analysis; Myelodysplastic syndrome

The aim of this study was to identify feature genes that are associated with hereditary hemochromatosis (HHC; iron overload) in cardiac and skeletal muscle of mice. First, the expression profile GSE9726 was downloaded from Gene Expression Omnibus database which included 12 samples. Then the differentially expressed genes (DEGs) were identified by R language. Furthermore, the KUPS software ... more

J. Wang; X. Zhou; J. Zhao; Z. Li; X. Li
02/25/2005
Body iron overload; European descent; Genetic diseases; Hereditary hemochromatosis; HFE mutations

Hereditary hemochromatosis (HH) is the most common genetic disease among individuals of European descent. Two mutations (845G®A, C282Y and 187C®G, H63D) in the hemochromatosis gene (HFE gene) are associated with HH. About 85-90% of patients of northern European descent with HH are C282Y homozygous. The prevalence of HH in the Brazilian ... more

A.L.C. Martinelli; R. Filho; S. Cruz; R. Franco; M. Tavella; M. Secaf; L. Ramalho; S. Zucoloto; S. Rodrigues; M. Zago
07/14/2009
Brazil; Hereditary hemochromatosis; HFE gene; S65C mutation

Development of hereditary hemochromatosis is asso­ciated with the C282Y, H63D or S65C mutations in the hemochro­matosis gene. Though there is extensive knowledge about the former two, there is little information on the mechanism of action and the allelic frequency of the S65C mutation. We examined the prevalence of the S65C mutation of the hemochromatosis gene in Brazilians with clinical ... more

V.C. Oliveira; F.A. Caxito; K.B. Gomes; A.M. Castro; V.C. Pardini; A.C.S. Ferreira
04/27/2016
Espírito Santo-Brazil; Hereditary hemochromatosis; HFE gene; Iron metabolism disorders; Iron overload; Polymorphisms

Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, ... more

L.N.R. Alves; E.V.W. Santos; E. Stur; A.M.A.Silva Conforti; I.D. Louro; L.N.R. Alves; E.V.W. Santos; E. Stur; A.M.A.Silva Conforti; I.D. Louro; L.N.R. Alves; E.V.W. Santos; E. Stur; A.M.A.Silva Conforti; I.D. Louro
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Antioxidant capacity; Hemochromatosis; Hemoglobin S; Hemoglobinopathy; HFE

It is well documented that Hb S and iron affect blood cells, and trigger oxidative processes and generation of free radicals with potential for lipid peroxidation. We evaluated the frequency of polymorphisms in the HFE gene in Hb AS blood donors and how these polymorphisms influenced lipid peroxidation and antioxidant capacity. Blood samples were collected from 211 Hb AS blood ... more

L.M.S. Viana-Baracioli; N.C.Tukamoto Junior; R. Júnior; L.C. Mattos; I.L. Ângulo; C.R. Bonini-Domingos
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Gene polymorphisms; HFE; Lead exposure; PON1; Saudi Arabia

Serum paraoxonase (PON1) and hemochromatosis (HFE) genes may play important roles in lead toxicity owing to their role in xenobiotic and iron metabolism, respectively. The association between PON1 and HFE genotypes and blood lead levels (BLLs) was examined in lead exposed subjects from Saudi Arabia. The polymorphisms at PON1 L55M, PON1 Q192R, HFE H63D and HFE C282Y ... more

A.P. Shaik; A.H. Alsaeed; M. Faiyaz-ul-Haque; M.A. Alsaeed; A.S. Shaik
10/31/2018
Adenosine deaminase; Diabetes mellitus type 2; Fasting Plasma glucose; Glycated Hemoglobin; Palestine

The adenosine deaminase G22A polymorphism (20q.11.33) affects the level of adenosine deaminase (ADA) expression, which plays an important role in the regulation of intracellular and extracellular concentrations of adenosine.  Recent studies reported greater ADA activity in diabetic patients and showed the role of ADA in the modulation of insulin ... more

S. Ereqat; L. Qrea; A. Nasereddin3