Association of HFE Gene Mutations With Serum Ferritin Level and Heart and Liver Iron Overload in Patients With Transfusion-dependent Beta-Thalassemia

Zekavat, Omid Reza; Jahromi, Mahshid Zareian; Haghpanah, Sezaneh; Jahromi, Zahra Kargar; Cohan, Nader

doi:10.1097/mph.0000000000001944

Cited by 6 publications

(5 citation statements)

References 17 publications

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“…Moreover, the content of Fe not only depends on the amount of iron in the serum but also is associated with the transferrin-bound iron. Most iron in the body is released from foods and the aging red blood cells, and the concentration is closely related to hemolytic anemia, hemopoietic dysfunction caused by lead poisoning, necrotic hepatitis, and hemosiderosis . Therefore, the detection of iron in serum samples and foods is of great significance for the iron supplement and disease diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Polyoxometalate Nanostructures Decorated with CuO Nanoparticles for Sensing Ascorbic Acid and Fe²⁺ Ions

Hu³

et al. 2021

ACS Appl. Nano Mater.

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Nanozymes are considered as ideal substitutes for nature enzymes; however, the enzyme activity and the relevant detection sensitivity in actual samples still need to be further improved. Here, a nanomaterial of CuO NP-POM composed of polyoxometalate (POM) decorated with copper oxide nanoparticles (CuO NPs), which possessed tetraenzyme mimetic activities including oxidase (OXD)-, peroxidase (POD)-, catalase (CAT)-, and glutathione peroxidase (GPx)-like activities was developed. The corresponding catalytic performances, mechanisms, and kinetics were systematically investigated. Based on the POD-like activity of a CuO NP-POM nanocomposite, a colorimetric sensing platform for ascorbic acid (AA) was built with the detection limit of 15 nM, depending on the fact that AA can efficiently react with the oxidation product of TMB, which was catalyzed by CuO NP-POM on the basis of the POD-like activity. A simple fluorometric sensor for Fe 2+ was developed on the basis of the GPx-like activity of CuO NP-POM with the detection limit of 8.0 nM. CuO NP-POM can weaken the fluorescence of the isoindole derivative derived from GSH and o-phthalaldehyde (OPA) due to the excellent GPx-like activity, which can accelerate the catalysis of GSH into GSSG in the presence of H 2 O 2 . However, in the presence of Fe 2+ , the fluorescence was recovered owing to the fact that the Fenton reaction between Fe 2+ and H 2 O 2 could reduce GSSG into GSH. The proposed colorimetric and fluorometric sensors have been successfully applied in detecting AA and Fe 2+ in several food and biological samples. This work not only developed a nanocomposite with enhanced multinanozyme activity but also offered rapidly detection methods for the analysis of specific targets via the special nanozyme activities.

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Section: Introductionmentioning

confidence: 99%

Polyoxometalate Nanostructures Decorated with CuO Nanoparticles for Sensing Ascorbic Acid and Fe²⁺ Ions

Hu³

et al. 2021

ACS Appl. Nano Mater.

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“…In their study among 253 patients with TDT 35.9% had H63D pathogenic variant. The C282Y pathogenic variant was present only in one patient 22 .. Different types of pathogenic variants in ferroportin were described causing type 4 haemochromatosis.…”

Section: Discussionmentioning

confidence: 90%

Assessment of Iron Overload in a Cohort of Sri Lankan Patients with Transfusion Dependent Beta Thalassaemia and its Correlation with Pathogenic Variants in HBB, HFE, SLC40A1, and TFR2 Genes

Dissanayake

Samarasinghe

Waidyanatha

et al. 2021

Preprint

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Background. Iron overload (IO) is a complication in transfusion dependent beta thalassaemmia (TDT). Pathogenic variants in genes involving iron metabolism may confer increased risk of IO. The objective of this study was to determine the magnitude of the cardiac and hepatic IO and determine whether pathogenic variants in HFE, SLC40A1 and TFR2 genes increase the risk of IO in a cohort of TDT patients in Sri Lanka.Materials and Methods. Fifty-seven (57) patients with TDT were recruited for this study. Serum ferritin was done once in 3 months for one year in all. Those who were ≥ 8 years of age underwent T2* MRI of the liver and heart. Fifty-two (52) patients underwent next generation sequencing (NGS) to identify pathogenic variants in HBB, HFE, SLC40A1 and TFR2 genes.Results. The mean age (SD) of this cohort was 9.5 (±4.6) years. It comprised of 30 (52.6%) boys and 27 (47.4%) girls. The mean serum ferritin was 3405 (±2670.5) ng/dl. Hepatic IO was seen in 38 (95%) patients and cardiac IO was seen in 17 (42.5%) patients. All patients with cardiac IO were asymptomatic and had normal echocardiogrammes. There was no statistically significant correlation between serum ferritin and hepatic or cardiac IO.32 (61.5%), 18 (34.6%), 2 (3.8%) of patients were homozygotes, compound heterozygotes and heterozygotes for pathogenic variants in the HBB gene. 9 (17.3%) and 3 (5.8%) patients were heterozygotes for pathogenic variants of HFE and SLC40A1 genes respectively. There were no pathogenic variants for the TfR2 gene. The heterozygotes of the pathogenic variants of the HFE and SLC40A1 genes were not at increased risk of IO.Conclusions. Cardiac T2* MRI helps to detect cardiac IO prior to the onset of symptoms when the echocardiogramme is normal. It is important to perform hepatic and cardiac MRI T2* to detect IO in patients with TDT.

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“…In their study among 253 patients with TDT 35.9% had H63D pathogenic variant. The C282Y pathogenic variant was present only in one patient [ 30 ].…”

Section: Discussionmentioning

confidence: 99%

Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes

et al. 2022

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Background Iron overload (IO) is a complication in transfusion dependent beta thalassaemia (TDT). Pathogenic variants in genes involving iron metabolism may confer increased risk of IO. The objective of this study was to determine the magnitude of the cardiac and hepatic IO and determine whether pathogenic variants in HFE, SLC40A1 and TFR2 genes increase the risk of IO in a cohort of TDT patients in Sri Lanka. Materials and Methods Fifty-seven (57) patients with TDT were recruited for this study. Serum ferritin was done once in 3 months for a period of one year in all. Those who were ≥ 8 years of age (40 patients) underwent T2* MRI of the liver and heart. Fifty-two (52) patients underwent next generation sequencing (NGS) to identify pathogenic variants in HBB, HFE, SLC40A1 and TFR2 genes. Results The median age of the patients of this cohort was 10 years. It comprised of 30 (52.6%) boys and 27 (47.4%) girls. The median level of serum ferritin was 2452 ng/dl. Hepatic IO was seen in 37 (92.5%) patients and cardiac IO was seen in 17 (42.5%) patients. There was no statistically significant correlation between serum ferritin and hepatic or cardiac IO. Thirty-two (61.5%), 18 (34.6%), 2 (3.8%) of patients were homozygotes, compound heterozygotes and heterozygotes for pathogenic variants in the HBB gene. Eight (15.4%) and 1 (1.9%) patients were heterozygotes for pathogenic and likely pathogenic variants of HFE genes respectively. There were no pathogenic variants for the TfR2 and SLC40A1 genes. The heterozygotes of the pathogenic variants of the HFE were not at increased risk of IO. Conclusions Cardiac T2* MRI helps to detect cardiac IO in asymptomatic patients. It is important to perform hepatic and cardiac T2* MRI to detect IO in patients with TDT. There was no statistically significant correlation between pathogenic variants of HBB and HFE genes with hepatic and cardiac IO in this cohort of patients.

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Association of HFE Gene Mutations With Serum Ferritin Level and Heart and Liver Iron Overload in Patients With Transfusion-dependent Beta-Thalassemia

Cited by 6 publications

References 17 publications

Polyoxometalate Nanostructures Decorated with CuO Nanoparticles for Sensing Ascorbic Acid and Fe²⁺ Ions

Polyoxometalate Nanostructures Decorated with CuO Nanoparticles for Sensing Ascorbic Acid and Fe²⁺ Ions

Assessment of Iron Overload in a Cohort of Sri Lankan Patients with Transfusion Dependent Beta Thalassaemia and its Correlation with Pathogenic Variants in HBB, HFE, SLC40A1, and TFR2 Genes

Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes

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Association of HFE Gene Mutations With Serum Ferritin Level and Heart and Liver Iron Overload in Patients With Transfusion-dependent Beta-Thalassemia

Cited by 6 publications

References 17 publications

Polyoxometalate Nanostructures Decorated with CuO Nanoparticles for Sensing Ascorbic Acid and Fe2+ Ions

Polyoxometalate Nanostructures Decorated with CuO Nanoparticles for Sensing Ascorbic Acid and Fe2+ Ions

Assessment of Iron Overload in a Cohort of Sri Lankan Patients with Transfusion Dependent Beta Thalassaemia and its Correlation with Pathogenic Variants in HBB, HFE, SLC40A1, and TFR2 Genes

Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes

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Polyoxometalate Nanostructures Decorated with CuO Nanoparticles for Sensing Ascorbic Acid and Fe²⁺ Ions

Polyoxometalate Nanostructures Decorated with CuO Nanoparticles for Sensing Ascorbic Acid and Fe²⁺ Ions