Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia

Al-Jaouni, Soad; Jarullah, Jummanah; Azhar, Esam I.; Moradkhani, Kamran

doi:10.1186/1756-0500-4-436

Cited by 22 publications

(14 citation statements)

References 22 publications

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“…Thereafter, reports on this variant appeared from several Arab countries including Tunisia, Jordan, Kuwait, UAE and Western Saudi Arabia with frequencies of 4.5, 3.6, 3.0, 16.7 and 17% respectively [17,18,20,24,41]. None of the 19 uncharacterized cases in the current study showed this variant.…”

Section: Discussionmentioning

confidence: 46%

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

et al. 2012

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Background Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. Methods A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C→T), Chatham (1003 G→A), A- (202 G→A) and Aures (143 T→C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C→T) silent mutation. Results G6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%). Conclusions Three polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to other Asian Arab countries, neighboring Turkey and Iran.

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Section: Discussionmentioning

confidence: 46%

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

et al. 2012

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“…G6PD Valladolid (406C>T, Arg136Cys) is a single point mutation located in exon 5, previously reported in Burmese and Cambodian . G6PD Aures (143T>C, Ile48Thr) located in exon 3 and originally reported in Saudi Arabia and United Arab Emirates has been proposed to be associated with G6PD deficiency . To our knowledge, this may be the first report of G6PD Valladolid and Aures in Thai population.…”

Section: Discussionmentioning

confidence: 56%

Evaluating the performance of automated UV enzymatic assay for screening of glucose 6‐phosphate dehydrogenase deficiency

Anantasomboon

Chanda

Jugnam-Ang

et al. 2018

Int J Lab Hematology

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Introduction A precise and reliable screening assay for glucose 6‐phosphate dehydrogenase (G6PD) deficiency would greatly help avoiding unwanted outcomes due to bilirubin neurotoxicity in neonatal jaundice and antimalarial‐induced haemolytic anaemia in malaria patients. Currently, available assays are laborious and require sophisticated laboratory expertise. This study aimed to evaluate the performance of a recently introduced automated screening assay for G6PD deficiency by comparing with a routine spectrophotometric assay. Methods An automated UV‐based enzymatic (Mindray, PRC) and spectrophotometric assays were performed simultaneously in parallel to determine G6PD activity in 251 blood samples from the subjects. Results The median G6PD activity value from spectrophotometric assay was significantly lower than that of from the automated assay. The mean difference was −2.0 U/g haemoglobin (−7.3 to 3.2; P < 0.0001). The mean activity values of both assays were strongly correlated with Pearson's correlation coefficient of r = 0.8. Cohen's kappa statistics between assays was 0.77 (0.70‐0.83). The sensitivity, specificity, positive and negative predictive values of the automated assay were 85.7%, 99.2%, 85.7%, 99.2%, respectively. The sensitivity and positive predictive values of the automated assay for identifying intermediate G6PD activity levels were 40.0% and 25.0%, respectively. Genotyping was performed to confirm G6PD deficient and intermediate samples. The turnaround time for 40 samples was 60 minutes for the automated assay and 300 minutes for spectrophotometric assay. Conclusion The automated assay for the detection of G6PD deficiency is comparable to a routine spectrophotometric assay and help reducing sample handling time. However, the assay shows limitation in identifying individuals with G6PD intermediate.

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“…Based on the polymorphisms in positions 202 and 376 of the G6PD gene, the three main variants of the phenotype are denoted: B, A, and A − [1]. The most frequent B variant, (202G/376A), is associated with normal enzymatic G6PD activity and is present in the human population worldwide [36,35].…”

Section: Introductionmentioning

confidence: 99%

Analysis of the genetic variants of glucose-6-phosphate dehydrogenase in inhabitants of the 4th Nile cataract region in Sudan

Kempińska-Podhorodecka

Knap

Drozd

et al. 2013

Blood Cells, Molecules, and Diseases

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Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia

Cited by 22 publications

References 22 publications

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

Evaluating the performance of automated UV enzymatic assay for screening of glucose 6‐phosphate dehydrogenase deficiency

Analysis of the genetic variants of glucose-6-phosphate dehydrogenase in inhabitants of the 4th Nile cataract region in Sudan

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