Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency among Jordanians

Al‐Sweedan, Suleimman; Awwad, Nor

doi:10.1159/000339505

Cited by 8 publications

(4 citation statements)

References 27 publications

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“…Moreover, Doss and Alasmar [10] report four variants to be exclusively found in the Arab world, namely p.Asp135Thr, p.Ser179Asn, p.Arg246Leu, and p.Glu307Pro. The variant p.Asp135Thr was observed in Egypt, Palestine, and Jordan [10,22,25], and we report it also here in our cohort with AF of 0.00033074. The variant p.Ser179Asn was reported in Palestine and was also seen in our study (AF = 0.00016537).…”

Section: Discussionsupporting

confidence: 79%

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Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population

et al. 2021

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Background Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the genetic basis of G6PDD in the Qatari population yet. Methods In this study, we analyzed whole-genome sequencing data generated by the Qatar Genome Programme for 6045 Qatar Biobank participants, to identify G6PDD variants in the Qatari population. In addition, we assessed the impact of the novel variants identified on protein function both in silico and by measuring G6PD enzymatic activity in the subjects carrying them. Results We identified 375 variants in/near G6PD gene, of which 20 were high-impact and 16 were moderate-impact variants. Of these, 14 were known G6PDD-causing variants. The most frequent G6PD-causing variants found in the Qatari population were p.Ser188Phe (G6PD Mediterranean), p.Asn126Asp (G6PD A +), p.Val68Met (G6PD Asahi), p.Ala335Thr (G6PD Chatham), and p.Ile48Thr (G6PD Aures) with allele frequencies of 0.0563, 0.0194, 0.00785, 0.0050, and 0.00380, respectively. Furthermore, we have identified seven novel G6PD variants, all of which were confirmed as G6PD-causing variants and classified as class III variants based on the World Health Organization’s classification scheme. Conclusions This is the first study investigating the molecular basis of G6PDD in Qatar, and it provides novel insights about G6PDD pathogenesis and highlights the importance of studying such understudied population.

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Section: Discussionsupporting

confidence: 79%

“…Studies conducted in the UAE, Jordan, Iraq, and Oman also reported relatively low prevalence (0.5-8.7%) of G6PD Chatham cases among G6PDD patients [21][22][23][24]. These similarities in G6PD variations observed across different Arab populations reflect the common ancestry and similar genetic background of Arabs.…”

Section: Discussionmentioning

confidence: 89%

Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population

et al. 2021

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“…The enzymopathy, G6PDd is an X-linked disease associated with various degrees of reduced G6PD enzyme activities [ 11 ]. A single amino acid substitution at position A376G converts the genotypic variant B to variant A, and a second amino acid substitution at position G202A result in a change from the A variant into the A- (A376G/G202A) variant [ 12 , 13 ]. The B, A, A- G6PDd variants are the most predominant in sub-Saharan Africa [ 14 – 16 ].…”

Section: Introductionmentioning

confidence: 99%

Genotypic glucose-6-phosphate dehydrogenase (G6PD) deficiency protects against Plasmodium falciparum infection in individuals living in Ghana

et al. 2021

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Introduction The global effort to eradicate malaria requires a drastic measure to terminate relapse from hypnozoites as well as transmission via gametocytes in malaria-endemic areas. Primaquine has been recommended for the treatment of P. falciparum gametocytes and P. vivax hypnozoites, however, its implementation is challenged by the high prevalence of G6PD deficient (G6PDd) genotypes in malaria endemic countries. The objective of this study was to profile G6PDd genotypic variants and correlate them with malaria prevalence in Ghana. Methods A cross-sectional survey of G6PDd genotypic variants was conducted amongst suspected malaria patients attending health care facilities across the entire country. Malaria was diagnosed using microscopy whilst G6PD deficiency was determined using restriction fragment length polymorphisms at position 376 and 202 of the G6PD gene. The results were analysed using GraphPad prism. Results A total of 6108 subjects were enrolled in the study with females representing 65.59% of the population. The overall prevalence of malaria was 36.31%, with malaria prevalence among G6PDd genotypic variants were 0.07% for A-A- homozygous deficient females, 1.31% and 3.03% for AA- and BA- heterozygous deficient females respectively and 2.03% for A- hemizygous deficient males. The odd ratio (OR) for detecting P. falciparum malaria infection in the A-A- genotypic variant was 0.0784 (95% CI: 0.0265–0.2319, p<0.0001). Also, P. malariae and P. ovale parasites frequently were observed in G6PD B variants relative to G6PD A- variants. Conclusion G6PDd genotypic variants, A-A-, AA- and A- protect against P. falciparum, P. ovale and P. malariae infection in Ghana.

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“…The majority of the cases were G6PD deficiency (6.7% of neonates examined), which is common in many Eastern Mediterranean nations, including Iraq (25)(26)(27). The incidence of G6PD deficiency in central and southern Iraq has been the subject of some investigations (28)(29)(30).…”

Section: Discussionmentioning

confidence: 99%

Overview of Duhok/Iraq Project of Expanded Newborn Screening

Jameel¹,

Mehe²

2024

Mil. Med. Sci. Lett.

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Background: Newborn screening is a public health prevention system that intends to detect, early in life, a group of serious diseases that require early intervention. Institutionalizing and sustaining this system presents a remarkable challenge in developing public health systems. Duhok project for expanded newborn screening started in June 2018 with a panel of seven diseases including phenylketonuria (PKU), Galactosemia (GAL), congenital hypothyroidism (CHT), Cystic fibrosifcardiacs (CF), Congenital adrenal hyperplasia (CAH), G6PD deficiency and biotinidase deficiency. In the next few years, the panel expanded to include, finally, 72 tests, to detect various disorders of amino acids, fatty acid oxidation, organic acid, lysosomal storage disease, immunodeficiency, spinal muscular dystrophy, and others. Objectives: To evaluate the Duhok project of expanded newborn screening. Methods: In a retrospective cross-sectional study conducted between June 2018 and 31 November 2021, a total of 3872 newborns were screened from 8 governorates of Iraq and the Kurdistan region. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing. Results: A total of 527 cases were detected, frequently detected disorders were Glucose 6 phosphate dehydrogenase deficiency, cystic fibrosis, congenital adrenal hyperplasia and phenyl ketone urea. Most of the positive cases (66%) were older than 7 days at screening. Conclusion:The article highlights the overview of the expanded newborn screening project in Duhok/Iraq. NBS has not yet become prevalent in Iraq, thus the screening for metabolic disorders is not normally requested until a patient is already experiencing symptoms.

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Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency among Jordanians

Cited by 8 publications

References 27 publications

Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population

Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population

Genotypic glucose-6-phosphate dehydrogenase (G6PD) deficiency protects against Plasmodium falciparum infection in individuals living in Ghana

Overview of Duhok/Iraq Project of Expanded Newborn Screening

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