Frequency of the HFE C282Y and H63D polymorphisms in Brazilian malaria patients and blood donors from the Amazon region

Torres, Felipe Rafael; Souza-Neiras, Wanessa Christina; Couto, Álvaro Augusto D'Almeida; Couto, Vanja Suely Calvosa D’Almeida; Cavasini, Carlos Eugênio; Rossit, Andréa Regina Baptista; Machado, Ricardo Luiz Dantas; Bonini-Domingos, Cláudia Regina

doi:10.4238/vol7-1gmr408

Cited by 8 publications

(13 citation statements)

References 10 publications

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“…The Netherlands and the Iberian Peninsula have a high frequency of the H63D allele that varies from 7.9% to 17.5% in the general population [38] . The frequency of S65C allele is low, 0%-1% in European and Brazilian populations [12,34,39] . Approximately 5% of individuals with a clinical diagnosis of HH are compound heterozygotes [40,41] .…”

Section: Hfe Compound Heterozygotesmentioning

confidence: 95%

Association between hereditary hemochromatosis and hepatocellular carcinoma: a comprehensive review

Jayachandran¹,

Shrestha²,

Bridle³

et al. 2020

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Hepatocellular carcinoma (HCC) is a significant global health problem with high morbidity and mortality. Its incidence is increasing exponentially worldwide with a close overlap between annual incidence and death rates. Even though significant advances have been made in HCC treatment, fewer than 20% of patients with HCC are suitable for potentially curative treatment. Hereditary hemochromatosis (HH) is an important genetic risk factor for HCC. HH is an autosomal recessive disorder of iron metabolism, characterised by elevated iron deposition in most organs including the liver, leading to progressive organ dysfunction. HCC is a complication of HH, nearly always occurring in patients with cirrhosis and contributes to increased mortality rates. Identifying the susceptibility of development of HCC in HH patients has gained much traction. This review summarises the current knowledge with regard to the association of HH and HCC in order to encourage further research. In this review, we focus particularly on HFE gene-related HH. Herein, we highlight and discuss emerging clinical research which addresses the prevalence of HCC in HH patients and the coincidence of HH with other risk factors for HCC development. We also focus on the therapeutic tools in the management of HCC associated with HH.

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Section: Hfe Compound Heterozygotesmentioning

confidence: 95%

Association between hereditary hemochromatosis and hepatocellular carcinoma: a comprehensive review

Jayachandran¹,

Shrestha²,

Bridle³

et al. 2020

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“…The genotypes of the hemoglobins were identified using allele-specific PCR (AS PCR). All of the samples were analyzed using the Restriction Fragment Length Polymorphisms (PCR-RFLP) technique in order to identify the mutations in the HFE gene (Torres et al, 2008). To determine the oxidative processes, we evaluated the antioxidant capacity based on Trolox (TEAC) (Re et al, 1999) and MDA for lipid peroxidation.…”

Section: Methodsmentioning

confidence: 99%

Comparison of oxidative stress and the frequency of polymorphisms in the HFE gene between hemoglobin S trait blood donors and sickle cell disease patients

Viana-Baracioli¹,

Tukamoto²,

Júnior³

et al. 2011

Genet. Mol. Res.

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ABSTRACT. 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 donors, 119 Hb AA blood donors as a control group, and 28 sickle cell disease patients (Hb SS). The H63D allele was found at a frequency of 10.5% in the Hb ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 10 (4): 3446-3454 (2011) Oxidative stress, gene HFE mutation, and HbS 3447AS samples, and the C282Y allele frequency was 0.7%. In the control group, the frequencies of the H63D and C282Y alleles were 13.4 and 2.1%, respectively. In the sickle-cell disease patients, the H63D and the C282Y allele frequencies were 10.7 and 3.5%, respectively. The frequencies of the C282Y and H63D polymorphisms in Hb AS blood donors are similar to those reported for the Brazilian population. Serum malondialdehyde values, indicative of lipid peroxidation, were highest in sickle cell patients, independent of the polymorphisms in the HFE gene, with significant differences, showing the influence of Hb S allele in the levels of lipid peroxidation. However, the trolox equivalent antioxidant capacity average levels, indicative of the antioxidant capacity, were reduced with significant differences, indicating that in spite of a lipid peroxidation raise, this is not followed by the increased of the antioxidant capacity, leading to oxidative stress.

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“…A few studies have evaluated the frequency of the HFE C282Y mutation in Brazilian healthy individuals, but the effect of this mutation on iron status in Brazilian healthy blood donors is not known (14)(15)(16). In addition, the frequency of TFR2 mutations in the Brazilian healthy population is also not known.…”

Section: Introductionmentioning

confidence: 99%

HFE gene mutations and iron status of Brazilian blood donors

Santos¹,

Cançado²,

Terada³

et al. 2010

Braz J Med Biol Res

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Frequency of the HFE C282Y and H63D polymorphisms in Brazilian malaria patients and blood donors from the Amazon region

Cited by 8 publications

References 10 publications

Association between hereditary hemochromatosis and hepatocellular carcinoma: a comprehensive review

Association between hereditary hemochromatosis and hepatocellular carcinoma: a comprehensive review

Comparison of oxidative stress and the frequency of polymorphisms in the HFE gene between hemoglobin S trait blood donors and sickle cell disease patients

HFE gene mutations and iron status of Brazilian blood donors

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