Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Poland - a Study on the 563 and 1311 Mutations of the G6PD Gene

1997 ◽  
Vol 5 (1) ◽  
pp. 22-24 ◽  
Author(s):  
Ewa Jablońska-Skwiecińska ◽  
Janusz G. Zimowski ◽  
Jolanta Kłopocka ◽  
Mariola Bisko ◽  
Dorota Hoffman-Zacharska ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
G6pd Gene ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Prevalence and Genetic Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Anemic Subjects from Uttar Pradesh, India

2019 ◽  
Vol 08 (02) ◽  
pp. 047-053 ◽  
Author(s):  
Poonam Tripathi ◽  
Sarita Agarwal ◽  
Srinivasan Muthuswamy
Keyword(s):  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Genetic Characterization ◽  
Gene Mutations ◽  
Uttar Pradesh ◽  
Chromosome X ◽  
G6pd Gene ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Fluorescent Spot

AbstractGlucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. It affects approximately 400 million people worldwide. The purpose of this study was to detect the prevalence of G6PD deficiency and G6PD gene mutations in the hospital-based settings in patients referred for suspected G6PD deficiency. A qualitative fluorescent spot test and dichlorophenol-indolphenol (DCIP) test were performed. G6PD-deficient, positive samples were further processed for mutation analysis by Sanger sequencing. Out of 1,069 cases, 95 (8.8%) were detected as G6PD deficient (by DCIP test) and were sent for molecular analysis. The G6PD Mediterranean mutation (563C > T) is the most common variant among G6PD-deficient individuals followed by the Coimbra (592C→T) and Orissa (131C→G) variants. We concluded that all symptomatic patients (anemic or jaundiced) should be investigated for G6PD deficiency. Our findings will inform our population screening approach and help provide better management for G6PD-deficient patients.

Glucose-6-Phosphate Dehydrogenase Deficiency in an Old Woman

2020 ◽  
Vol 6 (3) ◽  
Author(s):  
Briantais Antoine ◽  
Froidefond Margaux ◽  
Seguier Julie ◽  
Swiader Laure ◽  
Durand Jean Marc
Keyword(s):  
Dehydrogenase Deficiency ◽  
Glucose 6 Phosphate Dehydrogenase

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population

2021 ◽  
pp. 1-7
Author(s):  
Jian Gao ◽  
Sheng Lin ◽  
Shiguo Chen ◽  
Qunyan Wu ◽  
Kaifeng Zheng ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Amplification Refractory Mutation System ◽  
Gene Variants ◽  
Coding Region ◽  
G6pd Gene ◽  
Mutation System ◽  
Hotspot Mutations ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Generation Sequencing

<b><i>Background:</i></b> Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. This study aimed to characterize the G6PD gene variant distribution in Shenzhen of Guangdong province. <b><i>Methods:</i></b> A total of 33,562 individuals were selected at the hospital for retrospective analysis, of which 1,213 cases with enzymatic activity-confirmed G6PD deficiency were screened for G6PD gene variants. Amplification refractory mutation system PCR was first used to screen the 6 dominant mutants in the Chinese population (c.1376G&#x3e;T, c.1388G&#x3e;A, c.95A&#x3e;G, c.1024C&#x3e;T, c.392G&#x3e;T, and c.871G&#x3e;A). If the 6 hotspot variants were not found, next-generation sequencing was then performed. Finally, Sanger sequencing was used to verify all the mutations. <b><i>Results:</i></b> The incidence of G6PD deficiency in this study was 3.54%. A total of 26 kinds of mutants were found in the coding region, except for c.-8-624T&#x3e;C, which was in the noncoding region. c.1376G&#x3e;T and c.1388G&#x3e;A, both located in exon 12, were the top 2 mutants, accounting for 68.43% of all individuals. The 6 hotspot mutations had a cumulative proportion of 94.02%. <b><i>Conclusions:</i></b> This study provided detailed characteristics of G6PD gene variants in Shenzhen, and the results would be valuable to enrich the knowledge of G6PD deficiency.

Diversity in expression of glucose-6-phosphate dehydrogenase deficiency in females

1999 ◽  
Vol 55 (1) ◽  
pp. 13-19 ◽  
Author(s):  
Yousef M Abdulrazzaq ◽  
Rosette Micallef ◽  
M Mansoor Qureshi ◽  
Adekunle Dawodu ◽  
Ibrahim Ahmed ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Glucose 6 Phosphate Dehydrogenase

Three mutations analysis of glucose-6-phosphate dehydrogenase deficiency in neonates in South-west China

2007 ◽  
Vol 49 (4) ◽  
pp. 463-467
Author(s):  
CHUN DENG ◽  
CHUN-BAO GUO ◽  
YOU-HUA XU ◽  
BING DENG ◽  
JIA-LIN YU
Keyword(s):  
Dehydrogenase Deficiency ◽  
West China ◽  
South West ◽  
Glucose 6 Phosphate Dehydrogenase
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