G6PD-deficient Patient Research Articles

Bile cast nephropathy (cholemic nephropathy) associated with hepatitis A-induced acute liver failure and haemolysis in a patient with glucose-6-phosphate dehydrogenase deficiency

Introduction: The hepatitis A virus (HAV) is a common cause of acute hepatitis, while glucose-6-phosphate dehydrogenase (G6PD) deficiency is a widespread enzyme disorder that predisposes individuals to haemolysis and hyperbilirubinemia. We report a case of a G6PD-deficient patient with hepatitis A-induced acute renal failure (ARF), highlighting the role of plasmapheresis and haemodialysis in management. Case description: A 40-year-old male with G6PD deficiency and hypertension was transferred for further care after presenting with fever, diarrhoea and jaundice. Laboratory results showed severe haemolysis and elevated bilirubin (70 µmol/l); hepatitis A serology was positive. The patient developed acute liver failure and ARF, with creatinine reaching 7.3 mg/dl. Plasmapheresis and haemodialysis were initiated, leading to stabilisation of renal function and a significant decrease in bilirubin by six weeks post-discharge. Discussion: G6PD deficiency increases the risk of haemolysis, especially during infections such as hepatitis A. This can lead to severe hyperbilirubinemia and complications including bile cast nephropathy. In this case, plasmapheresis effectively reduced bilirubin and inflammatory mediators, while haemodialysis addressed renal dysfunction. Together, these therapies were crucial in stabilising renal function. Conclusion: Bile cast nephropathy is an important cause of kidney injury in severe hyperbilirubinemia. This case highlights the effectiveness of plasmapheresis and haemodialysis in managing the condition and supporting renal recovery, especially in the absence of established treatment guidelines.

Prevalence of Glucose 6 Phosphate Dehydrogenase Deficiency in Population of Gujarat - Report of 9184 Cases

Background: All humans have the Glucose 6 phosphate dehydrogenase gene. Some people are born with a mutation of the Glucose 6 phosphate dehydrogenase gene. Most of these individuals are asymptomatic but may exhibit non-immune hemolytic anemia, even severe anemia in response to exposure to certain environmental triggers, most commonly, infection or exposure to certain foods like fava beans (favism), medications or chemicals. G6PD deficiency is an X-linked disorder that primarily affects males. Heterozygous females do not usually develop severe hemolytic anemia due to G6PD deficiency. This study destined to reveal the prevalence of G6PD deficiency in south Gujarat population. Methods: This is a retrospective case study designed to assess the prevalence of G6PD deficiency in gujarat population, for patient requesting G6PD test at multiple collection center of Desai metropolis laboratory pvt ltd. between January 2022 to May 2023. Glucose-6-phosphate dehydrogenase deficiency analysis was done by Methylene dye blue test (Arkray MBK) – Qualitative method. All G6PD deficient patient confirmed by G6PD-quantitative (Kinetic method). Results: Total 9180 patients (5790 male and 3394 female) were included in this study. They were subsequently categorized into various subgroups and analysed properly. The incidence of G6PD deficiency in the selected sample frame of cases was 3.69 %. In which 4.11% of G6PD deficient cases belong to the male while the rest 2.98 % belong to the female. Conclusion: Therefore, to conclude whenever clinical and hematological findings raise the suspicion of glucose 6 phosphate dehydrogenase deficiency, the disorder should be confirmed by quantitative/quantitative measurement of red blood cell enzyme activity in both male and female. There is also need for a large screening programme, especially in malaria endemic zones.

Acute hemolytic anaemia following naphthalene poisoning in a G6PD deficient patient

Naphthalene is a widely used industrial and household chemical in the form of mothballs. They are potentially hazardous and rare agents of poisoning. We present a case of ingestional naphthalene poisoning in a G6PD deficient 20 years old male patient with a good outcome after proper management. He presented with abdominal pain, vomiting, fever, passage of dark cola colored urine and jaundice after deliberate ingestion of few mothballs. Features of severe intravascular hemolysis with methemoglobinemia were detected. His G6PD activity was found below normal and was diagnosed as G6PD deficiency disorder. He was treated with IV saline infusion, multiple blood transfusions, IV ascorbic acid and N-acetyl cysteine. He was discharged after 10 days of hospital stay with full recovery. Bangladesh Crit Care J March 2022; 10 (1): 71-74

COVID-19 may enhance risk of thrombosis and hemolysis in the G6PD deficient patients

COVID-19 has become a major public health problem since December, 2019 and no highly effective drug has been found until now. Numbers of infected people and deaths by COVID-19 are increasing every day worldwide, therefore self-isolation and protection are highly recommended to prevent the spread of the virus and especially to protect major risk groups such as the elderly population and people with comorbidities including diabetes, hypertension, cancer, cardiovascular diseases and metabolic syndrome. On the other hand, young people without any secondary disease have died by COVID-19 as well. In this study we compared two male patients infected by COVID-19 at the same age and one of them was diagnosed with G6PD deficiency. Both COVID-19 and G6PD deficiency enhance the risk of hemolysis and thrombosis. Serum biochemistry, hemogram and immunological parameters showed that risk of hemolysis and thrombosis may increase in the G6PD deficient patient infected by COVID-19.

Ofloxacin Induced Hemolysis in G6PD-deficient Patient: A Rare Cause of Pigment Nephropathy

Thrombotic microangiopathy (TMA) commonly presents as a triad of acute kidney injury (AKI), jaundice, and hemolysis; however, tropical infections such as malaria, dengue, leptospira, and drugs like antimalarials can also have a similar presentation. They can cause AKI for many reasons including pre-renal causes but an important yet not relatively uncommon genetic cause of hemolytic anemia, that is, glucose 6-phosphate deficiency (G6PD) manifesting as jaundice, hemolysis, and AKI secondary to pigment nephropathy after receiving offending drugs needs to be worked up while evaluating such patients. Ofloxacin is not usually included in the lists of unsafe drugs in G6PD deficiency. Herein, we report a patient developing intravascular hemolysis secondary to G6PD deficiency associated with ofloxacin administration presenting as a rare cause for pigment nephropathy.

Castleman disease and SLE in a G6PD-deficient Marfan patient: a case report and literature review

IntroductionMarfan syndrome, G6PD deficiency, systemic lupus erythematosus (SLE), and Castleman disease are four distinctive, thoroughly investigated entities whose coincidence was never reported. However, occurrence in pairs was sporadically mentioned in literature.Case presentationWe report a 15-year-old Caucasian G6PD deficient Marfan male patient, who presented with tonic–clonic seizures, fever, a hemolytic episode, and general symptoms. After the discovery of hepatosplenomegaly, malar rash, and painless lymphadenopathy, further testing diagnosed a multifocal Castleman disease of the hyaline vascular subtype and systemic lupus erythematosus with lupus nephritis that got 35 points on the 2019 EULAR/ACR criteria. G6PD deficiency, SLE & Castleman disease, and seizures were handled medically with eventual improvement in the patient’s condition.Discussion and conclusionIt is extremely rare to discover the gathering of these four diseases in the same patient. Marfan syndrome and G6PD deficiency were proven by respective clinical and laboratory examinations. Castleman disease that tends to occur in older age groups was confirmed via pathological study of a lymph node biopsy, which was compatible with the HHV-8 negative type reported in Asian countries. SLE is part of the differential diagnosis for Castleman disease, yet the newest evidence strongly supports its presence as a distinct entity. However, no concrete proof is available to suggest a causative relationship between the four of them, rather than a coincidental occurrence.

Therapeutic blockade of inflammation in severe COVID-19 infection with intravenous N-acetylcysteine

Glucose 6-phosphate dehydrogenase (G6PD) deficiency facilitates human coronavirus infection due to glutathione depletion. G6PD deficiency may especially predispose to hemolysis upon coronavirus disease-2019 (COVID-19) infection when employing pro-oxidant therapy. However, glutathione depletion is reversible by N-acetylcysteine (NAC) administration. We describe a severe case of COVID-19 infection in a G6PD-deficient patient treated with hydroxychloroquine who benefited from intravenous (IV) NAC beyond reversal of hemolysis. NAC blocked hemolysis and elevation of liver enzymes, C-reactive protein (CRP), and ferritin and allowed removal from respirator and veno-venous extracorporeal membrane oxygenator and full recovery of the G6PD-deficient patient. NAC was also administered to 9 additional respirator-dependent COVID-19-infected patients without G6PD deficiency. NAC elicited clinical improvement and markedly reduced CRP in all patients and ferritin in 9/10 patients. NAC mechanism of action may involve the blockade of viral infection and the ensuing cytokine storm that warrant follow-up confirmatory studies in the setting of controlled clinical trials.

Automated-red cell exchange for methaemoglobinaemia in a G6PD-deficient patient.

Methaemoglobinaemia in G6PD deficiency can be managed by oxidizing agents such as methylene blue and red cell exchange (RCE). We describe a G6PD-deficient patient who presented with oxidative stress with methaemoglobinaemia and was successfully managed with automated-RCE. At presentation, the patient had anaemia, was restless, was tired and had dyspnoea. Co-oximetry showed methaemoglo-binaemia of 10.1 U/g. Further testing revealed the patient had insufficient quantities of G6PD enzyme activity (0.1 U/g Hb). In view of methaemoglobinaemia, severe G6PD deficiency and signs of haemolysis, therapeutic RCE was planned. The patient underwent two automated-RCE procedures on consecutive days, bringing down his methaemoglobin levels from 12.5 to 0.1 U/g. In each procedure, 1.5 volumes of RCE at 100% balance rate was performed using 5 units of red blood cells. The patient responded well to RCE and other supportive treatment and was off medication and doing well at day 100 of follow-up.

Atypical presentation of dengue fever in a G6PD deficient patient - a case report

Dengue is a mosquito-borne viral disease that has rapidly spread in the recent years, particularly in South Asia. While haematologic complications, such as cytopenia and bleeding, may occur in severe dengue infection, reports of haemolytic anaemia in dengue fever are scant. We report a patient who developed haemolytic anaemia following dengue fever. A 45 years old gentleman presented with five-day history of fever and was recently diagnosed with dengue fever. He developed jaundice and started vomiting on the third day of his clinical course. His laboratory investigations revealed deranged liver profile, Coombs negative haemolytic anaemia and G6PD deficiency. He was treated conservatively with fluids and blood transfusions. His liver functions and haemolytic anaemia gradually resolved. This case highlights the importance of recognising dengue fever-induced haemolytic anaemia in a G6PD deficient patient by physicians and pathologists, enabling better diagnosis and improved management of this life-threatening condition.

A vegetable-induced hemolytic crisis in a G6PD deficient person: a case report

BackgroundHemolysis can occur in people with G6PD deficiency under oxidative stress. Acalypha indica is a tropical plant used as a medicinal plant as well as a vegetable. There are a few reported cases of Acalypha indica ingestion induced hemolysis in G6PD deficient people. All except one of them are from Sri Lanka. The information available at present (2017) about G6PD deficiency prevalence and variants of the G6PD gene among Sri Lankans is very sparse. There are no past reports on hemolytic crisis in a G6PD deficient person presenting mimicking leptospirosis.Case presentationA middle-aged Sri Lankan man presented on the third day of illness complaining of fever, head ache, arthralgia, myalgia, abdominal pain, vomiting, passing dark urine and reduced of urine volume. He gave a history of possible exposure to leptospirosis. He was pale, icteric and his liver was palpable 1 cm below costal margin and there were no other remarkable findings upon physical examination. He had neutrophilic leucocytosis. Leptospirosis was diagnosed. During the second assessment we noticed he was very pale and his urine sample pointed towards hemoglobinuria. Further questioning revealed he had consumed leaves of Acalypha indica as a vegetable. Acute hemolysis in a G6PD deficient patient following Acalypha indica ingestion was diagnosed. Blood transfusions were given to correct his anemia. Later, Brewer’s test and quantitative assay of G6PD levels confirmed the diagnosis of G6PD deficiency.ConclusionsA hemolytic crisis following oxidative stresses in G6PD deficient patients can present mimicking leptospirosis. Further investigations may reveal why the great majority of cases of acute hemolysis in G6PD deficient person following Acalypha indica ingestion are from Sri Lanka.

Safety of weekly primaquine in G6PD deficient patient with relapsing vivax malaria: A case report

Safety of weekly primaquine in G6PD deficient patient with relapsing vivax malaria: A case report

Gold nanostructures for the multiplex detection of glucose-6-phosphate dehydrogenase gene mutations

We describe a gold nanoparticle-based technique for the detection of single-base mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene, a condition that can lead to neonatal jaundice and hemolytic anemia. The aim of this technique is to clearly distinguish different mutations frequently described within the Asian population from their wild-type counterparts and across different mutant variants. Gold nanoparticles of different sizes were synthesized, and each was conjugated with a single-strand DNA (ssDNA) sequence specific for a particular mutation in the G6PD gene. It was found that only mutant targets presented a characteristic band on the agarose gel, indicating the successful formation of dimeric nanostructures. No such dimer bands were observed for the wild-type targets. The difference in the relative dimer band levels allowed different mutant variants to be distinguished from one another. The technique was further validated using G6PD-deficient patient samples. This simple mutation detection method with direct result readout is amenable for rapid and mass screening of samples.

Henna: A cause of life threatening hemolysis in G6PD-deficient patient

Glucose-6-phosphate dehydrogenase deficiency is the most important disease of the hexosemonophosphate pathway and is responsible for neonatal jaundice that can be very severe in G6PD deficiency and induces permanent damage to the brain and causes kernicterus and death. Henna is a traditional cosmetic agent to stain the hair, skin and nails. It can cause hemolysis in G6PD deficient patients because of lawsone (2-hydroxy-1, 4naphthoquinone) that has oxidative properties similar to naphtalin. We report on a 35 days boy with jaundice (bil: 50.2), hemogluinuria and kernicterus symptoms after application of henna on his skin. In laboratory test his G6PD enzyme activity was deficient.doi: http://dx.doi.org/10.12669/pjms.291(Suppl).3549How to cite this:Ilkhanipur H, Hakimian N. Henna: A cause of life threatening hemolysis in G6PD-deficient patient. Pak J Med Sci 2013;29(1)Suppl:429-431. doi: http://dx.doi.org/10.12669/pjms.291(Suppl).3549 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Intravascular Haemolysis due to Glucose -6- Phosphate Dehydrogenase Deficiency in a Patient with Aluminum Phosphide Poisoning

Aluminum phosphide (AlP) poisoning and glucose?6?phosphate dehydrogenase (G6PD) deficiency are two common clinical problems in Iran. However, hemolysis associated with AlP poisoning is extremely rare. We report a 24-year-old G6PD deficient patient with AlP poisoning presenting with intravascular hemolysis.

CPB management of G6PD deficient patient – a case report

CPB management of G6PD deficient patient – a case report

Perioperative challenges in a patient of severe G6PD deficiency undergoing open heart surgery

We describe a successful perioperative management of a case of 38-year-old male, presented with chronic jaundice with severe mitral stenosis and moderate tricuspid regurgitation; upon evaluation, he was found to have severe glucose-6-phosphate dehydrogenase (G6PD) deficiency. Usually, patients deficient in G6PD exhibit increased hemolysis and therefore increased need for blood transfusion after cardiac surgery as well as impaired oxygenation in the postoperative period leading to prolonged ventilation. On reperfusion after a period of ischemia, the antioxidant system recruits all of its components in an attempt to neutralize the overwhelming oxidative stress of free radicals, as the free radical scavenging system is deficient in these patients, the chances of free-radical-induced injury is more. Our patient underwent mitral valve replacement and tricuspid annuloplasty under cardiopulmonary bypass with necessary precautions to reduce the formation of free radicals. Treatment was targeted toward the prevention of free radical injury in the G6PD-deficient patient. He had an uneventful intraoperative and postoperative course.

Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutation

Glucose-6-phosphate dehydrogenase (G6PD), an X-linked hereditary deficiency, is the most common of all clinically significant enzyme defects. While many drugs are responsible for haemolytic anaemia in G6PD-deficient patients, acetaminophen's imputability is still under debate, although an overdose of this drug can provoke acute haemolytic events. We report a case of a Philipino child carrying the G6PD-Vanua Lava mutation with acute haemolytic crisis related to infection in progress and acetaminophen's administration. Fever and concomitant infection, through an increment of erythrocyte glutathione depletion, sensitized the infant to the haemolytic event. In this condition, acetaminophen (or paracetamol [PCM]) was capable of inducing a haemolytic crisis in our G6PD-deficient patient although administered under standard conditions. PCM seems to have induced the haemolytic event, probably by the alteration of its catabolism due to dehydration and fever. The enzymatic G6PD instability associated to the presence of the G6PD-Vanua Lava mutation could have led to an increment of red blood cells' sensitivity to lysis; hence, it is possible that PCM toxicity may also be due to the presence of this particular mutation. Finally, we propose a new biochemical classification of this G6PD variant.

The first case of a class I glucose-6-phosphate dehydrogenase deficiency, G6PD Santiago de Cuba (1339 G > A), in a Chinese population as found in a survey for G6PD deficiency in northeastern and central China.

In Liaoning Province in northeastern China, we found a G6PD-deficient patient at the age of 3. By the classification of the World Health Organization, this patient was categorized as class I (very severe G6PD deficiency). When we investigated the G6PD gene of the patient, we found that he had a replacement of G to A at nucleotide 1339. As a result, the amino acid at position 447 should change from Gly to Arg. This replacement is known as G6PD Santiago de Cuba, because it was first discovered in a Cuban boy who showed heavy chronic anemia. Today, 28 G6PD variants have been reported in the Chinese population, and all are categorized as class II (severe deficiency) or class III (mild deficiency); in class II or III deficiency, anemia is not present in daily life, but hemolytic attack can occur when the carrier ingests certain oxidative medicines or foods. This is the first report of a G6PD-deficient Chinese patient in the category of class I. We intended to find other G6PD-deficient cases in northeastern China and tested several hundred blood samples, but no cases of G6PD deficiency were found (0/414). In central China, where falciparum malaria was endemic from the 1950s to 1970s, we found two G6PD-deficient cases (2/27) and the other members from their families whose variant type was G6PD Kaiping (1388G > T), which is a common variant in the Chinese population.

Perioperative Management of the Glucose-6-Phosphate Dehydrogenase Deficient Patient: A Review of Literature

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in humans. It is estimated that about 400 million people are affected by this deficiency. The G6PD enzyme catalyzes the first step in the pentose phosphate pathway, leading to antioxidants that protect cells against oxidative damage. A G6PD-deficient patient, therefore, lacks the ability to protect red blood cells against oxidative stresses from certain drugs, metabolic conditions, infections, and ingestion of fava beans. The following is a literature review, including disease background, pathophysiology, and clinical implications, to help guide the clinician in management of the G6PD-deficient patient. A literature search was conducted in the following databases: PubMed, The Cochrane Library, Web of Science, OMIM, and Google; this was supplemented by a search for selected authors. Keywords used were glucose-6-phosphate dehydrogenase (G6PD) deficiency, anesthesia, analgesia, anxiolysis, management, favism, hemolytic anemia, benzodiazepines, codeine, codeine derivatives, ketamine, barbiturates, propofol, opioids, fentanyl, and inhalation anesthetics. Based on titles and abstracts, 23 papers and 1 website were identified. The highest prevalence of G6PD is reported in Africa, southern Europe, the Middle East, Southeast Asia, and the central and southern Pacific islands; however, G6PD deficiency has now migrated to become a worldwide disease. Numerous drugs, infections, and metabolic conditions have been shown to cause acute hemolysis of red blood cells in the G6PD-deficient patient, with the rare need for blood transfusion. Benzodiazepines, codeine/codeine derivatives, propofol, fentanyl, and ketamine were not found to cause hemolytic crises in the G6PD-deficient patient. The most effective management strategy is to prevent hemolysis by avoiding oxidative stressors. Thus, management for pain and anxiety should include medications that are safe and have not been shown to cause hemolytic crises, such as benzodiazepines, codeine/codeine derviatives, propofol, fentanyl, and ketamine. The authors of this article make 5 particular recommendations: (1) Anyone suspected of G6PD deficiency should be screened; (2) exposure to oxidative stressors in these individuals should be avoided; (3) these patients should be informed of risks along with signs and symptoms of an acute hemolytic crisis; (4) the clinician should be able to identify both laboratory and clinical signs of hemolysis; and finally, (5) if an acute hemolytic crisis is identified, the patient should be admitted for close observation and care.

Primary HIV infection presenting as haemolytic crisis in a patient with previously undiagnosed glucose 6-phosphate dehydrogenase deficiency

Primary HIV infection presenting as haemolytic crisis in a patient with previously undiagnosed glucose 6-phosphate dehydrogenase deficiency