Prevalence of factor V Leiden and G6PD 1311 silent mutations in dalmatian population

Čikeš, Vedrana; Abaza, Irina; Krželj, Vjekoslav; Marinović-Terzić, Ivana; Tafra, Robert; Trlaja, Anuška; Marušić, Eugenija; Terzić, Janoš

doi:10.1016/j.arcmed.2004.07.005

Cited by 10 publications

(2 citation statements)

References 15 publications

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“…11% of the prevalence in G6PD deficiency was found in the Dalmatian population. In an Iran the prevalence rate was 2.5% and in our population this mutation was completely absent in the G6PD deficiency [8]. …”

Section: Resultsmentioning

confidence: 95%

Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population

Alharbi

Khan²,

Syed³

2012

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We performed a study to evaluate the role of three single nucleotide polymorphisms (SNPs), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (PRT or FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFRC677T), as risk factors for G6PD in Saudi populations. Our results did not show any association with the three Thrombophilic genes with FVL gene, no statistical analysis have shown any association with either allele or genotype frequencies OR=0.566, p=.0.667, (95% CI=0.014-22.48) and OR=0.569, p=0.251¸ (95% CI=0.014-22.96).In PRT gene G20210A for G Vs A, p=0.774; OR=0.566 (95%CI; 0.011-29.6); AA+GA Vs GG; p=0.502; OR=0.569 (95%CI=0.010-2969). G and A allele frequencies were similar between cases and controls with no statistical significance. In the MTHFR gene none of the genotypes or allele frequency cannot show any association OR=1.281, p=.0.667, (95% CI=0.414-3.958) and OR=1.1.172, p=0.800¸ (95% CI=0.343-4.008). Similarly, the difference of T allele frequencies between patients and controls was not found any association. In conclusion, our finding indicates that the prevalence of G1691A, G20210A and C677T mutations in G6PD deficient individuals is not statistically different compared to normal subjects and G6PD is not associated with these thrombophilic mutations in Saudi population.

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Section: Resultsmentioning

confidence: 95%

Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population

Alharbi

Khan²,

Syed³

2012

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“…An isolate was described in the small town of Komiza on the island Vis with a significantly higher prevalence of G6PD deficiency (5.96% in males) compared with the general population of southern Croatia ( 22 ). In southern Croatia, cases of favism have been describedand an association was found between Factor V Leiden and G6PD deficiency ( 14 , 22 , 23 ). This study aimed to determine the prevalence of G6PD deficiency in male newborns with hyperbilirubinaemia in southern Croatia.…”

Section: Discussionmentioning

confidence: 99%

Influence of the Inherited Glucose-6-phosphate Dehydrogenase Deficiency on the Appearance of Neonatal Hyperbilirubinemia in Southern Croatia

et al. 2015

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Background:Neonatal hyperbilirubinemia is a common clinical manifestation of the inherited glucose-6-phosphate dehydrogenase (G6PD) deficiency.Aim of the study:The aim of this study was to investigate the influence of the inherited G6PD deficiency on the appearance of neonatal hyperbilirubinemia in southern Croatia.Methods:The fluorescent spot test (FST) was used in a retrospective study to screen blood samples of 513 male children who had neonatal hyperbilirubinemia, of unknown cause, higher than 240 μmol/L. Fluorescence readings were performed at the beginning and at the fifth and tenth minute of incubation and were classified into three groups bright fluorescence (BF), weak fluorescence (WF) and no fluorescence (NF). Normal samples show bright fluorescence. All NF and WF samples at the fifth minute were quantitatively measured using the spectrophotometric method.Results:Bright fluorescence was present in 461 patients (89.9%) at the fifth minute. The remaining 52 (10.1%) were quantitatively estimated using the spectrophotometric method. G6PD deficiency was observed in 38 patients (7.4%).Conclusions:Prevalence rate of G6PD deficiency among male newborns with hyperbilirubinemia in southern Croatia is significantly higher (p < 0.01) compared with the previously reported prevalence rate among male in general population of southern Croatia (0.75%). We recommend FST to be performed in hyperbilirubinemic newborns in southern Croatia.

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G6PD deficiency—does it alter the course of COVID-19 infections?

Wiśniewski

Benjamin

et al. 2023

Ann Hematol

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Despite the existence of well-founded data around the relationship between reactive oxygen species (ROS) and glucose-6-phosphate dehydrogenase (G6PD), current research around G6PD-deficient patients with viral infections, and limitations as a result of their condition, are inadequate. Here, we analyze existing data around immunological risks, complications, and consequences of this disease, particularly in relation to COVID-19 infections and treatment. The relationship between G6PD deficiency and elevated ROS leading to increased viral load suggests that these patients may confer heightened infectivity. Additionally, worsened prognoses and more severe complications of infection may be realized in class I G6PD-deficient individuals. Though more research is demanded on the topic, preliminary studies suggest that antioxidative therapy which reduces ROS levels in these patients could prove beneficial in the treatment of viral infections in G6PD-deficient individuals.

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Prevalence of factor V Leiden and G6PD 1311 silent mutations in dalmatian population

Cited by 10 publications

References 15 publications

Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population

Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population

Influence of the Inherited Glucose-6-phosphate Dehydrogenase Deficiency on the Appearance of Neonatal Hyperbilirubinemia in Southern Croatia

G6PD deficiency—does it alter the course of COVID-19 infections?

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