Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and senile cataract in a Sardinian male population, Italy

2009 ◽  
Vol 16 (6) ◽  
pp. 395-399 ◽  
Author(s):  
Antonio Pinna ◽  
Adele Pes ◽  
Angelo Zinellu ◽  
Arturo Carta ◽  
Giuliana Solinas
Keyword(s):  
G6pd Deficiency ◽  
Senile Cataract ◽  
Male Population ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals G6PD Status in Patients with Presenile and Senile Cataract

1970 ◽  
Vol 6 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Farzana Yasmin ◽  
Noorzahan Begum ◽  
Sultana Ferdousi
Keyword(s):  
G6pd Deficiency ◽  
Cross Sectional Study ◽  
Senile Cataract ◽  
Control Group ◽  
Chi Square ◽  
Cross Sectional ◽  
Chi Square Test ◽  
Male Patients ◽  
Group B ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the common enzymopathy and may be one of the risk factor for both presenile and senile cataract. Objective: To observe erythrocyte G6PD level in male patients with presenile and senile cataract in order to find out their enzyme status. Methods: This cross sectional study was carried out in the Department of Physiology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag Dhaka between 1st July 2009 and 30th June 2010. 60 male patients with presenile and senile cataract were included in the study group (Group-B). They were selected from Out patient Department (OPD) of Ophthalmology of BSMMU in Dhaka City. For comparison age matched 60 apparently healthy male without cataract (Group A) were also studied. According to age both study & control group were again subdivided in to Group B1 & A1(presenile,aged 40-60 years) and Group B2 & A2(senile, aged >60 years). Erythrocyte G6PD level was measured by Spectrophotometric method. Data were analyzed by independent sample t test, ANOVA, Chi-square test as applicable. Results: Mean erythrocyte G6PD level was significantly lower (P<0.01) in the presenile and senile cataractous groups compared to their corresponding noncataractous subjects. However 26.7% cataractous patients in presenile and 6.7% in senile group were G6PD deficient. Conclusion: Erythrocyte G6PD deficiency may be present in both presenile and senile cataract but more marked in presenile cataract patients. Key words: G6PD; Cataract. DOI: http://dx.doi.org/10.3329/jbsp.v6i1.8058 J Bangladesh Soc Physiol. 2011 June; 6(1): 1-4

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 Molecular Epidemiology of G6PD Genotypes in Different Ethnic Groups Residing in Saharan and Sahelian Zones of Mauritania

Pathogens ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 931
Author(s):  
Oum Kelthoum Mamadou Djigo ◽  
Mohamed Salem Ould Ahmedou Salem ◽  
Sileye Mamadou Diallo ◽  
Mohamed Abdallahi Bollahi ◽  
Boushab Mohamed Boushab ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
African Ancestry ◽  
Population Based ◽  
Black African ◽  
Plasmodium Vivax Malaria ◽  
The Mediterranean ◽  
Linguistic Groups ◽  
Study Sites ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Genotype Screening

Plasmodium vivax malaria is endemic in Mauritania. Individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop acute hemolytic anemia when exposed to 8-aminoquinoline antimalarial drugs, which are indispensable for a complete cure. The prevalence of G6PD allelic variants was assessed in different ethno-linguistic groups present in Mauritania. A total of 996 blood samples (447 males and 549 females; 499 white Moors and 497 individuals of black African ancestry) were collected from febrile patients in 6 different study sites: Aleg, Atar, Kiffa, Kobeni, Nouakchott, and Rosso. The presence of the African-type G6PD A- (G202A, A376G, A542T, G680T, and T968C mutations) and the Mediterranean-type G6PD B- (C563T) variants was assessed by PCR followed by restriction fragment length polymorphism and/or DNA sequencing. The prevalence of African-type G6PD A- genotype was 3.6% (36/996), with 6.3% (28/447) of hemizygote (A-) males and 1.5% (8/549) of homozygous (A-A-) females. Forty of 549 (7.3%) women were heterozygous (AA-). The following genotypes were observed among hemizygous men and/or homozygous women: A376G/G202A (22/996; 2.2%), A376G/T968C Betica-Selma (12/996; 1.2%), and A376G/A542T Santamaria (2/996; 0.2%). The Mediterranean-type G6PD B- genotype was not observed. The prevalence rates of G6PD A- genotype in male (10/243; 4.1%) and heterozygous female (6/256; 2.3%) white Moors were lower (p < 0.05) than those of males (18/204; 8.8%) and heterozygous females (34/293; 11.6%) of black African ancestry. There were only a few homozygous women among both white Moors (3/256; 1.2%) and those of black African ancestry (5/293; 1.7%). The prevalence of G6PD deficiency in Mauritania was comparable to that of neighboring countries in the Maghreb. Because of the purportedly close ethnic ties between the Mauritanian white Moors and the peoples in the Maghreb, further investigations on the possible existence of the Mediterranean-type allele are required. Moreover, a surveillance system of G6PD phenotype and/or genotype screening is warranted to establish and monitor a population-based prevalence of G6PD deficiency.

Molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in three Taiwan aboriginal tribes

1995 ◽  
Vol 95 (6) ◽  
Author(s):  
TangK. Tang ◽  
Wen-Yi Huang ◽  
Chieh-Ju Chang Tang ◽  
Mutsu Hsu ◽  
Tai-Ann Cheng ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Molecular Basis ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Glucose 6 phosphate dehydrogenase deficiency and hemoglobinopathy in South Western Region Nepal: a boon or burden

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Narayan Gautam ◽  
Bhagwati Gaire ◽  
Trishna Manandhar ◽  
Bishnu P. Marasini ◽  
Niranjan Parajuli ◽  
...  
Keyword(s):  
Sickle Cell ◽  
G6pd Deficiency ◽  
Sickle Cell Trait ◽  
Amplification Refractory Mutation System ◽  
Cellulose Acetate Electrophoresis ◽  
Positive Trait ◽  
Arms Pcr ◽  
Phenotypic Method ◽  
Mutation System ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anemia (SCA), and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 phosphate dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate. Results The 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic method using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3%) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.

scholarly journals From Prejudice to Evidence: The Case of Rhizoma Coptidis in Singapore

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Chin Ee Ho ◽  
You Li Goh ◽  
Chang Zhang
Keyword(s):  
Chinese Medicine ◽  
Traditional Chinese Medicine ◽  
G6pd Deficiency ◽  
Neonatal Jaundice ◽  
Therapeutic Effects ◽  
Evidence Based ◽  
Rhizoma Coptidis ◽  
History Of ◽  
Hepatoprotective Effects ◽  
Glucose 6 Phosphate Dehydrogenase

Rhizoma Coptidis (RC), commonly known ashuanglian, is a herb frequently used in Traditional Chinese Medicine (TCM) prescriptions. Known to have “clearing damp-heat, quenching fire and counteracting poison” properties, it was widely used in the Chinese community in Singapore. Berberine, an alkaloid isolated from RC, is known to have a wide array of therapeutic effects including antimicrobial, antineoplastic, and hepatoprotective effects. In 1978, RC was implicated in causing neonatal jaundice (NNJ) and kernicterus in neonates suffering from glucose-6-phosphate dehydrogenase (G6PD) deficiency, leading to the banning of RC and berberine in Singapore. More than three decades later, accumulating evidence-based studies pointing to the safety of RC for general public and better understanding of G6PD deficiency, the Health Sciences Authority (HSA) in Singapore reviewed and lifted the prohibition on RC and berberine, turning a brand new chapter in the history of TCM in Singapore. This paper aims to review the safety of RC and berberine, using the prohibition of use and subsequent lifting of ban on RC and berberine in Singapore as an illustration to highlight the importance of evidence-based studies in Traditional Chinese Medicine (TCM).

scholarly journals A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency

2020 ◽  
Author(s):  
Jitendar Mohan Khunger ◽  
Monika Gupta ◽  
Ankur Jain ◽  
Monica Khunger Malhotra
Keyword(s):  
Oxidative Stress ◽  
Blood Cells ◽  
G6pd Deficiency ◽  
Rare Case ◽  
Dehydrogenase Deficiency ◽  
Globin Gene ◽  
Genetic Abnormality ◽  
Wide Range ◽  
Symptomatic Anaemia ◽  
Glucose 6 Phosphate Dehydrogenase

β-thalassaemia is one of the most prevalent autosomal disorders worldwide. Mutations/deletions in globin gene underlie deficiencies in Haemoglobin (Hb) production, which can interfere with oxygen delivery by Hb, resulting in thalassaemias causing anaemias with a wide range of disease severity. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic abnormality resulting in inadequate amount of G6PD in the Red Blood Cells (RBCs). In patients with G6PD deficiency, the reduced or absent activity of the enzyme in RBCs causes premature haemolysis and symptomatic anaemia. The marked oxidative stress caused by homozygous β-thalassaemia is apparently incompatible with G6PD deficiency. Here, a rare case of six-month-old male child is described who presented with severe pallor hepato-splenomegaly and these two conditions co-existed in this patient.

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