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 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 Anaesthesia for a child with glucose-6-phosphate-dehydrogenase deficiency: a case report

2020 ◽  
Vol 6 (12) ◽  
pp. 526
Author(s):  
Baththirange Malaka Munasinghe ◽  
Srisothinathan Nimalan ◽  
Nishanthan Subramaniam ◽  
Sonali Goonetilleke
Keyword(s):  
Oxidative Stress ◽  
Case Report ◽  
General Anaesthesia ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Perioperative Period ◽  
Postoperative Monitoring ◽  
Successful Case ◽  
Operative Planning ◽  
Glucose 6 Phosphate Dehydrogenase

<p class="abstract">Patients with glucose-6-phosphate-dehydrogenase (G6PD) deficiency are prone to acute haemolytic crisis during perioperative period, precipitated by oxidative stress and certain medications, which are common concurrences during this period. Careful peri-operative planning, judicious use of medication and postoperative monitoring plays a pivotal role in preventing complications in these patients. Here, we report a successful case of general anaesthesia in a child with G6PD deficiency.  </p>

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 Relationship between Type 2 Diabetes and Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency and Their Effect on Oxidative Stress

2018 ◽  
Vol 09 (08) ◽  
Author(s):  
Godwill Azeh Engwa ◽  
Friday Nweke Nwalo ◽  
Gregory Eze Chibuzor ◽  
Endaline Chiamaka Ejiagha ◽  
Micheal Chinweuba Abonyi ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Type 2 Diabetes ◽  
G6pd Deficiency ◽  
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.

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 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.

scholarly journals Severe Malaria Complicated by G6PD Deficiency in a Pediatric Tanzanian Immigrant

2014 ◽  
Vol 19 (4) ◽  
pp. 325-334
Author(s):  
Heather N. Damhoff ◽  
Robert J. Kuhn ◽  
Laura P. Stadler
Keyword(s):  
United States ◽  
Plasmodium Falciparum ◽  
Severe Malaria ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Febrile Illness ◽  
The United States ◽  
The World ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Dual Infections

Approximately 1,500 cases of malaria are diagnosed in the United States each year. Most cases are travelers and immigrants returning from parts of the world where malaria transmission occurs. Malaria is the most frequent cause of systemic febrile illness without localizing symptoms in travelers returning from the developing world, so vigilance by providers is needed when evaluating patients returning from areas in which malaria is endemic. Despite the availability of effective treatment, malaria still accounts for more than 1 million deaths per year worldwide, with rates being disproportionately high in young children under the age of 5. We present the case of a 4-year-old refugee who emigrated from Tanzania with severe malaria due to dual infections of Plasmodium falciparum and P. ovale, whose treatment course was complicated by quinidine gluconate cardiotoxicity and glucose-6-phosphate dehydrogenase deficiency.

scholarly journals Glucose-6-Phosphate Dehydrogenase Deficiency and the Benefits of Early Screening

2020 ◽  
Vol 39 (5) ◽  
pp. 270-282
Author(s):  
Julie Jensen DelFavero ◽  
Amy J. Jnah ◽  
Desi Newberry
Keyword(s):  
United States ◽  
Risk Assessment ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Assessment Tool ◽  
The United States ◽  
Assessment Tools ◽  
Early Screening ◽  
Intercultural Marriages ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy worldwide, is an insufficient amount of the G6PD enzyme, which is vital to the protection of the erythrocyte. Deficient enzyme levels lead to oxidative damage, hemolysis, and resultant severe hyperbilirubinemia. If not promptly recognized and treated, G6PD deficiency can potentially lead to bilirubin-induced neurologic dysfunction, acute bilirubin encephalopathy, and kernicterus. Glucose-6-phosphate dehydrogenase deficiency is one of the three most common causes for pathologic hyperbilirubinemia. A change in migration patterns and intercultural marriages have created an increased incidence of G6PD deficiency in the United States. Currently, there is no universally mandated metabolic screening or clinical risk assessment tool for G6PD deficiency in the United States. Mandatory universal screening for G6PD deficiency, which includes surveillance and hospital-based risk assessment tools, can identify the at-risk infant and foster early identification, diagnosis, and treatment to eliminate neurotoxicity.

Clinical Spectrum of Primaquine-induced Hemolysis in Glucose-6-Phosphate Dehydrogenase Deficiency: A 9-Year Hospitalization-based Study From the Brazilian Amazon

2019 ◽  
Vol 69 (8) ◽  
pp. 1440-1442 ◽  
Author(s):  
Jose Diego Brito-Sousa ◽  
Thalie C Santos ◽  
Sara Avalos ◽  
Gustavo Fontecha ◽  
Gisely C Melo ◽  
...  
Keyword(s):  
Renal Failure ◽  
Acute Renal Failure ◽  
Plasmodium Vivax ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Brazilian Amazon ◽  
Clinical Spectrum ◽  
Life Threatening ◽  
Endemic Areas ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Despite glucose-6-phosphate dehydrogenase (G6PD) deficiency prevalence of 5% in the Amazon, primaquine is administered without G6PD screening. This is an important cause of hospitalization among Plasmodium vivax–infected individuals, leading to life-threatening anemia and acute renal failure across endemic areas. In Manaus, the frequency of primaquine-induced hemolysis was 85.2 cases per 100 000 primaquine users.

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