scholarly journals PO 8527 GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND ASSOCIATION WITH UNCOMPLICATED MALARIA IN CONGOLESE CHILDREN CONSULTING IN A PAEDIATRIC HOSPITAL IN BRAZZAVILLE

2019 ◽  
Vol 4 (Suppl 3) ◽  
pp. A49.3-A50
Author(s):  
Nerly S Gampio Gueye ◽  
Velavan P Thirumalaisamy ◽  
Christevy Vouvoungui ◽  
Simon Ch Kobawila ◽  
David Nderu ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Uncomplicated Malaria ◽  
Dehydrogenase Deficiency ◽  
Haemoglobin Concentration ◽  
Public Health Problem ◽  
Malaria Prevalence ◽  
Paediatric Hospital ◽  
High Prevalence ◽  
Republic Of The Congo ◽  
Glucose 6 Phosphate Dehydrogenase

BackgroundMalaria remains a public health problem in Republic of the Congo. The sub-microscopic infection including gametocytaemia constitutes a parasite reservoir that is recognised to contribute to malaria transmission. It is known that primaquine, an 8-aminoquinoline, is effective to eliminate Plasmodium falciparum (Pf) gametocytes. However, it induces haemolytic anaemia in individuals with glucose-6-phosphate dehydrogenase deficiency (G6PDd). It has been reported G6PDd also confers protection against severe malaria. To know the prevalence of G6PDd in the Congolese population is important in the case of future utilisation of this drug in the country. Therefore, in this study, we investigated 1) the prevalence of G6PDd in children infected with Pf and 2) the possible association between the presence of malaria, the presence of G6PD mutation and haemoglobin concentration.Methods229 children aged 1 to 10 years old presenting with fever (axillary T°≥37.5°C) were enrolled at the paediatric hospital Marien Ngouabi in Brazzaville. Thick and thin blood smears were done to detect and identify malaria parasites and determine parasite density. To detect the different glucose-6-phosphate dehydrogenase genotypes, a 968 bp fragment of the G6PD gene containing the polymorphisms 202G&gt1;A and 376&gt1;G was amplified by PCR followed by sequencing.ResultsMalaria prevalence was 22 (10%). With regard to G6PD analysis, it was found that 206 patients had G6PD genotype available including 74.8% (154/206) with G6PD normal, 12.1% (25/206) with heterozygous genotypes and 13.1% (27/206) with G6PD deficiency [11.6% (24/206) were male hemizygous and 1.4% (3/206) were female homozygous]. Data are further analysed to investigate the association between G6PD genotype, uncomplicated malaria, haemoglobin concentration as well as parasite densities.ConclusionA high prevalence of G6PD deficiency is reported for these Congolese children. Further investigation with larger sample size in different areas of the country is needed to design future and adapted interventions.

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 Acute Hemolytic Anemia Induced by Levofloxacin in A Woman With G6PD Deficiency: A Case Report

2021 ◽  
Author(s):  
Ebrahim Salehifar ◽  
Masoud Aliyali ◽  
Aliyeh Bazi
Keyword(s):  
Case Report ◽  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Drug Induced ◽  
High Prevalence ◽  
Northern Regions ◽  
Alternative Antibiotic ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Possible Cause

Introduction: Glucose 6-Phosphate Dehydrogenase deficiency (G6PD) is an X-linked recessive disorder recognized as the most prevalent enzyme deficiency around the world. G6PD deficiency has a high prevalence in Iran, especially in the northern regions. As we know, hemolysis in G6PD patients was not reported with levofloxacin previously. Case Report: In this report, we introduce a 54-year-old G6PD deficient woman who experienced the symptoms of hemolytic anemia following completion of treatment with levofloxacin. Result: After ruling out other causes of hemolysis, by using the Naranjo scale, levofloxacin was considered as a possible cause of hemolysis. Conclusion: Though the hemolytic anemia induced by levofloxacin is extremely rare in G6PD deficient patients, drug-induced hemolytic anemia should be considered as one of the differential diagnoses. It would be appropriate to use an alternative antibiotic instead of levofloxacin in a G6PD deficient patient.  

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.

scholarly journals Case report: Acute Hepatitis E Infection with Co-Existent Glucose-6-Phosphate Dehydrogenase Deficiency

2003 ◽  
Vol 14 (4) ◽  
pp. 230-231 ◽  
Author(s):  
Amitabh Monga ◽  
Ravinder PS Makkar ◽  
Anju Arora ◽  
Surabhi Mukhopadhyay ◽  
Ajay K Gupta
Keyword(s):  
Viral Hepatitis ◽  
G6pd Deficiency ◽  
Hepatitis E Virus ◽  
Dehydrogenase Deficiency ◽  
Acute Viral Hepatitis ◽  
Hepatitis E ◽  
Severe Anemia ◽  
Northern India ◽  
Acute Hepatitis E ◽  
Glucose 6 Phosphate Dehydrogenase

Hepatitis E virus is one of the leading causes of acute viral hepatitis in India but usually manifests as a mild self-limiting illness. Viral hepatitis in the presence of glucose-6-phosphate dehydrogenase (G6PD) deficiency may be associated with complications such as severe anemia, hemolysis, renal failure, hepatic encephalopathy and even death. The incidence of G6PD deficiency in the general population of northern India is reported to be between 2.2% and 14%. Despite both hepatitis E infection and G6PD deficiency being common, their impact on patient illness has only recently been reported. The present study reports a case of severe hemolysis in a patient with G6PD deficiency and hepatitis E infection.

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 Paroxysmal Nocturnal Hemoglobinuria with Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report and Review of the Literature

2019 ◽  
Vol 12 (3) ◽  
pp. 838-844
Author(s):  
Mahmoud S. Eisa ◽  
Shehab F. Mohamed ◽  
Firyal Ibrahim ◽  
Khalid Shariff ◽  
Nagham Sadik ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
G6pd Deficiency ◽  
Paroxysmal Nocturnal Hemoglobinuria ◽  
Dehydrogenase Deficiency ◽  
Response To Treatment ◽  
X Chromosomes ◽  
Financial Status ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Real Challenge ◽  
And Oxidative Stress

In this study, we are describing a female patient with paroxysmal nocturnal hemoglobinuria (PNH) and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Both diseases are known to cause hemolytic anemia that mediates the hemolysis of RBCs through several mechanisms. In PNH the hemolysis is mediated through complement activation and oxidative stress. G6PD enzyme is crucial in preventing damage to cellular structures caused by oxygen-free radicles. In G6PD deficiency the hemolysis is mediated through the oxidative stress created by oxygen-free radicles. Since both diseases mediate hemolysis through the oxidative stress, we hypothesize that both conditions have facilitated an effect on each other and this will reflect on the response to treatment, and this response to treatment could vary based on whether the two mutations occurred in the same gene or in two different X chromosomes. Having diagnosed PNH, the management is very expensive and not all the patients can afford it, especially our patient who is a maid by occupation. So, the real challenge in our case is to monitor her in subsequent visits and to plan the treatment keeping in mind her financial status.

scholarly journals General Anesthesia in a Glucose-6-Phosphate Dehydrogenase Deficiency Child: A Case Report

2019 ◽  
Vol 66 (2) ◽  
pp. 94-96
Author(s):  
Takahiro Goi ◽  
Yoshiki Shionoya ◽  
Katsuhisa Sunada ◽  
Kiminari Nakamura
Keyword(s):  
Case Report ◽  
High Risk ◽  
General Anesthesia ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Risk Group ◽  
High Risk Group ◽  
Antioxidant Effect ◽  
Attending Physician ◽  
Glucose 6 Phosphate Dehydrogenase

We performed general anesthesia on a 3-year-old boy with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Patients with G6PD deficiency exhibit jaundice and anemia due to hemolysis caused by a lack of the G6PD enzyme. To maintain anesthesia, we used propofol and remifentanil, which may prevent hemolytic attacks by exerting an antioxidant effect. In addition, because the patient was in a high-risk group for the development of methemoglobinemia, we used mepivacaine as a local anesthetic. We liaised with the patient's attending physician to make sufficient arrangements, such as securing an emergency transfer on the day of anesthesia. The patient did not develop hemolytic attacks during or after the procedure, and he progressed well without problems.

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 Equine Glucose-6-phosphate Dehydrogenase Deficiency

1994 ◽  
Vol 31 (5) ◽  
pp. 518-527 ◽  
Author(s):  
S. L. Stockham ◽  
J. W. Harvey ◽  
D. A. Kinden
Keyword(s):  
Nicotinamide Adenine Dinucleotide ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Reduced Glutathione ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
Electron Microscopic ◽  
Transmission Electron ◽  
Transmission Electron Microscopic ◽  
Reduced Nicotinamide Adenine Dinucleotide ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a well-characterized X-linked inherited disorder in humans but has not been reported in horses. We describe a persistent hemolytic anemia and hyperbilirubinemia due to a severe G6PD deficiency in an American Saddlebred colt. Other abnormalities in the colt's erythrocytes as compared with those of healthy horses ( n = 22–35) included increased activities of hexokinase and pyruvate kinase, decreased concentrations of reduced glutathione and reduced nicotinamide adenine dinucleotide phosphate (NADP), and increased concentration of oxidized NADP. Morphologic abnormalities included eccentrocytosis, pyknocytosis, anisocytosis, macrocytosis, and increased number of Howell-Jolly bodies. Scanning and transmission electron microscopic examinations revealed that eccentrocytes had contracted to spherical regions and thin collapsed regions. Eccentrocytes were more electron dense than were normal erythrocytes when examined by transmission electron microscopy. When exposed to acetylphenylhydrazine, erythrocytes from the G6PD-deficient colt produced more and smaller Heinz bodies than did erythrocytes from normal horses. Abnormalities in the colt's dam included presence of eccentrocytes and pyknocytes; her average erythrocyte G6PD activity was slightly below the range of reference values.

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