scholarly journals Distribution of G6PD deficiency genotypes among Southeast Asian populations

2021 ◽  
Vol 49 (1) ◽  
Author(s):  
Indah S. Tantular ◽  
Fumihiko Kawamoto
Keyword(s):  
G6pd Deficiency ◽  
Genetic Disorders ◽  
Epidemiological Studies ◽  
Southeast Asian ◽  
Genotype Distribution ◽  
Asian Countries ◽  
Asian Populations ◽  
Functional Variants ◽  
G6pd Gene ◽  
Glucose 6 Phosphate Dehydrogenase

AbstractGlucose-6-phosphate dehydrogenase (G6PD) deficiency is a group of X-linked, hereditary genetic disorders caused by mutations in the G6PD gene and results in functional variants of about 400 biochemical and clinical phenotypes. Among them, more than 215 genotypes have been identified so far. In this review, specific features of the genotype distribution in different communities and countries are discussed based on multiple reports and our molecular epidemiological studies of Southeast Asian countries. Particularly, in Indonesia, the frequency distribution of G6PD deficiency variants was distinct between western and eastern Indonesian populations, suggesting two different gene flows during Indonesian expansions.

G6PD-MutDB: A MUTATION AND PHENOTYPE DATABASE OF GLUCOSE-6-PHOSPHATE (G6PD) DEFICIENCY

2010 ◽  
Vol 08 (supp01) ◽  
pp. 101-109 ◽  
Author(s):  
XIN ZHAO ◽  
ZUOFENG LI ◽  
XIAOYAN ZHANG
Keyword(s):  
Blood Cells ◽  
G6pd Deficiency ◽  
Pentose Phosphate ◽  
Data Resource ◽  
Clinical Phenotypes ◽  
Functional Variants ◽  
G6pd Gene ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Disease Specific ◽  
Functional Phenotype

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymatic disorder of red blood cells in humans due to mutations in the G6PD gene. The G6PD enzyme catalyzes the first step in the pentose phosphate pathway to protect cells against oxidative stress. Mutations in the G6PD gene will cause functional variants with various biochemical and clinical phenotypes. So far, about 160 mutations along with more than 400 biochemical variants have been described. G6PD-MutDB is a disease-specific resource of G6PD deficiency, collecting and integrating G6PD mutations with biochemical and clinical phenotypes. Data of G6PD deficiency is manually extracted from published papers, focusing primarily on variants with identified mutation and well-described quantitative phenotypes. G6PD-MutDB implements an approach, CNSHA predictor, to help identify a potential chronic non-spherocytic hemolytic anemia (CNSHA) phenotype of an unknown mutation. G6PD-MutDB is believed to facilitate analysis of relationship between molecular mutation and functional phenotype of G6PD deficiency owing to convenient data resource and useful tools. This database is available from .

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.

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.

scholarly journals Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene

Blood ◽  
1993 ◽  
Vol 81 (8) ◽  
pp. 2150-2154 ◽  
Author(s):  
DT Chiu ◽  
L Zuo ◽  
L Chao ◽  
E Chen ◽  
E Louie ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Point Mutations ◽  
Nucleotide Substitutions ◽  
New Findings ◽  
G6pd Gene ◽  
High Prevalence ◽  
Chinese Descent ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Sequencing Procedure

Abstract The underlying DNA changes associated with glucose-6-phosphate dehydrogenase (G6PD)-deficient Asians have not been extensively investigated. To fill this gap, we sequenced the G6PD gene of 43 G6PD- deficient Chinese whose G6PD was well characterized biochemically. DNA samples were obtained from peripheral blood of these individuals for sequencing using a direct polymerase chain reaction (PCR) sequencing procedure. From these 43 samples, we have identified five different types of nucleotide substitutions in the G6PD gene: at cDNA 1388 from G to A (Arg to His); at cDNA 1376 from G to T (Arg to Leu); at cDNA 1024 from C to T (Leu to Phe); at cDNA 392 from G to T (Gly to Val); at cDNA 95 from A to G (His to Arg). These five nucleotide substitutions account for over 83% of our 43 G6PD-deficient samples and these substitutions have not been reported in non-Asians. The substitutions found at cDNA 392 and cDNA 1024 are new findings. The substitutions at cDNA 1376 and 1388 account for over 50% of the 43 samples examined indicating a high prevalence of these two alleles among G6PD-deficient Chinese. Our findings add support to the notion that diverse point mutations may account largely for much of the phenotypic heterogeneity of G6PD deficiency.

scholarly journals Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan

Blood ◽  
1992 ◽  
Vol 80 (4) ◽  
pp. 1079-1082 ◽  
Author(s):  
JG Chang ◽  
SS Chiou ◽  
LI Perng ◽  
TC Chen ◽  
TC Liu ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Restriction Enzymes ◽  
Common Mutation ◽  
Simple Method ◽  
Molecular Defects ◽  
G6pd Gene ◽  
Restriction Sites ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Deficiency Cases

Abstract We have developed a rapid and simple method to diagnose the molecular defects of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese in Taiwan. This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. Ninety- four Chinese males with G6PD deficiency were studied. The results show that 50% (47 of 94) were G to T mutation at nucleotide (nt) 1376, 21.3% (20 of 94) were G to A mutation at nt 1388, 7.4% (7 of 94) were A to G mutation at nt 493, 7.4% (7 of 94) were A to G mutation at nt 95, 4.2% (4 of 94) were C to T mutation at nt 1024, 1.1% (1 of 94) was G to T mutation at nt 392, and 1.1% (1 of 94) was G to A mutation at nt 487. These results show that the former five mutations account for more than 90% of G6PD deficiency cases in Taiwan. Aside from showing that G to T change at nt 1376 is the most common mutation, our research indicates that nt 493 mutation is a frequent mutation among Chinese in Taiwan. We compared G6PD activity among different mutations, without discovering significant differences between them.

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

PLoS ONE ◽  
2021 ◽  
Vol 16 (9) ◽  
pp. e0257562
Author(s):  
Linda Eva Amoah ◽  
Kwame Kumi Asare ◽  
Donu Dickson ◽  
Joana Abankwa ◽  
Abena Busayo ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Malaria Prevalence ◽  
Health Care Facilities ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Length Polymorphisms ◽  
G6pd Gene ◽  
High Prevalence ◽  
Care Facilities ◽  
Glucose 6 Phosphate Dehydrogenase

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.

scholarly journals Glucose-6-phosphate Dehydrogenase Deficiency: A Case Report

2017 ◽  
Vol 12 (1) ◽  
pp. 47-49
Author(s):  
Md Kamrul Hassan ◽  
Aloke Kumar Saha ◽  
Lakshman Chandra Kundu ◽  
Poly Begum ◽  
Abu Yousuf
Keyword(s):  
G6pd Deficiency ◽  
Neonatal Jaundice ◽  
Dehydrogenase Deficiency ◽  
Cultural Factors ◽  
Enzyme Defect ◽  
Asian Populations ◽  
Hemolytic Crisis ◽  
Life Threatening ◽  
Fava Beans ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder and more than 200 million people have a deficiency in this enzyme. G6PD deficiency is an X-linked enzyme defect, and one of its main signs is the presence of hemolytic anemia. It is a worldwide important cause of neonatal jaundice and causes life threatening hemolytic crisis in childhood. At later ages, certain drugs such as anti-malarial drugs and fava beans cause hemolysis among G6PD deficiency patients. The frequency and severity is influenced by genetic and cultural factors. It is common in Mediterranean, African and some East Asian populations but rare in Bangladeshi peoples. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.Faridpur Med. Coll. J. Jan 2017;12(1): 47-49

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

2010 ◽  
pp. 4473-4479 ◽  
Author(s):  
Lucio Luzzatto
Keyword(s):  
Oxidative Damage ◽  
Red Blood Cells ◽  
X Chromosome ◽  
Blood Cells ◽  
G6pd Deficiency ◽  
P Deficiency ◽  
G6pd Gene ◽  
Glucose 6 Phosphate Dehydrogenase

Deficiency of the enzyme glucose 6-phosphate dehydrogenase (G6PD) in red blood cells is an inherited abnormality due to mutations of the G6PD gene on the X chromosome that renders the cells vulnerable to oxidative damage. The condition is widespread in many populations living in or originating from tropical and ...

scholarly journals Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene

Blood ◽  
1993 ◽  
Vol 81 (8) ◽  
pp. 2150-2154
Author(s):  
DT Chiu ◽  
L Zuo ◽  
L Chao ◽  
E Chen ◽  
E Louie ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Point Mutations ◽  
Nucleotide Substitutions ◽  
New Findings ◽  
G6pd Gene ◽  
High Prevalence ◽  
Chinese Descent ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Sequencing Procedure

The underlying DNA changes associated with glucose-6-phosphate dehydrogenase (G6PD)-deficient Asians have not been extensively investigated. To fill this gap, we sequenced the G6PD gene of 43 G6PD- deficient Chinese whose G6PD was well characterized biochemically. DNA samples were obtained from peripheral blood of these individuals for sequencing using a direct polymerase chain reaction (PCR) sequencing procedure. From these 43 samples, we have identified five different types of nucleotide substitutions in the G6PD gene: at cDNA 1388 from G to A (Arg to His); at cDNA 1376 from G to T (Arg to Leu); at cDNA 1024 from C to T (Leu to Phe); at cDNA 392 from G to T (Gly to Val); at cDNA 95 from A to G (His to Arg). These five nucleotide substitutions account for over 83% of our 43 G6PD-deficient samples and these substitutions have not been reported in non-Asians. The substitutions found at cDNA 392 and cDNA 1024 are new findings. The substitutions at cDNA 1376 and 1388 account for over 50% of the 43 samples examined indicating a high prevalence of these two alleles among G6PD-deficient Chinese. Our findings add support to the notion that diverse point mutations may account largely for much of the phenotypic heterogeneity of G6PD deficiency.

scholarly journals Glucose-6 phosphate dehydrogenase deficiency and newborn screening

2020 ◽  
Vol 8 (12) ◽  
pp. 4538
Author(s):  
Samapika Bhaumik ◽  
Suprava Patel ◽  
Phalguni Padhi
Keyword(s):  
Newborn Screening ◽  
Distribution Pattern ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Genetic Disorders ◽  
Tribal Population ◽  
Study Results ◽  
The World ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Parental Counselling

Glucose-6 phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder causing breakdown of RBCs. It affects over 400 million people, making it the most common enzymopathy in the world. It leads to hereditary predisposition to hemolysis. In India, various study results reveal an incidence ranging from 2 to 27.9% in different communities. It is known globally for its genetic and phenotypic heterogeneity with 13 biochemically characterized variants have been reported from India, G6PD Mediterranean being the most common. It is mostly asymptomatic but certain triggers like infections, some medications, chemicals, stress or food may precipitate hemolysis. It is important to understand the epidemiology and distribution pattern in India because of its higher prevalence in tribal population who are more prone for malaria. Irrational use of drugs for malaria treatment has attributed high mortality especially neonatal mortality, in this community. Newborn screening is one of the best options to diagnose the case at neonatal age. Implementation of newborn screening would aid in identifying the genetic disorders in order to provide comprehensive care along with parental counselling to reduce the complications associated with it.

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