Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP)

1989 ◽  
Vol 81 (2) ◽  
pp. 161-164 ◽  
Author(s):  
Joan Lluis Vives-Corrons ◽  
M. Assumpci� Pujades ◽  
Josep Petit ◽  
Dolors Colomer ◽  
Montserrat Corbella ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Familial Amyloidotic Polyneuropathy ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Clinical spectrum and severity of hemolytic anemia in glucose 6-phosphate dehydrogenase–deficient children receiving dapsone

Blood ◽  
2012 ◽  
Vol 120 (20) ◽  
pp. 4123-4133 ◽  
Author(s):  
Allan Pamba ◽  
Naomi D. Richardson ◽  
Nick Carter ◽  
Stephan Duparc ◽  
Zul Premji ◽  
...  
Keyword(s):  
Blood Transfusion ◽  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Case Reports ◽  
Drug Induced ◽  
Once Daily ◽  
Maximum Decrease ◽  
Life Threatening ◽  
The Mean ◽  
Glucose 6 Phosphate Dehydrogenase

AbstractDrug-induced acute hemolytic anemia led to the discovery of G6PD deficiency. However, most clinical data are from isolated case reports. In 2 clinical trials of antimalarial preparations containing dapsone (4,4′-diaminodiphenylsulfone; 2.5 mg/kg once daily for 3 days), 95 G6PD-deficient hemizygous boys, 24 G6PD-deficient homozygous girls, and 200 girls heterozygous for G6PD deficiency received this agent. In the first 2 groups, there was a maximum decrease in hemoglobin averaging −2.64 g/dL (range −6.70 to +0.30 g/dL), which was significantly greater than for the comparator group receiving artemether-lumefantrine (adjusted difference −1.46 g/dL; 95% confidence interval −1.76, −1.15). Hemoglobin concentrations were decreased by ≥ 40% versus pretreatment in 24/119 (20.2%) of the G6PD-deficient children; 13/119 (10.9%) required blood transfusion. In the heterozygous girls, the mean maximum decrease in hemoglobin was −1.83 g/dL (range +0.90 to −5.20 g/dL); 1 in 200 (0.5%) required blood transfusion. All children eventually recovered. All the G6PD-deficient children had the G6PD A− variant, ie, mutations V68M and N126D. Drug-induced acute hemolytic anemia in G6PD A− subjects can be life-threatening, depending on the nature and dosage of the drug trigger. Therefore, contrary to current perception, in clinical terms the A− type of G6PD deficiency cannot be regarded as mild. This study is registered at http://www.clinicaltrials.gov as NCT00344006 and NCT00371735.

Severe-glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte dysfunction, and increased susceptibility to infections: description of a new molecular variant (G6PD Barcelona)

Blood ◽  
1982 ◽  
Vol 59 (2) ◽  
pp. 428-434 ◽  
Author(s):  
JL Vives Corrons ◽  
E Feliu ◽  
MA Pujades ◽  
F Cardellach ◽  
C Rozman ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Specific Activity ◽  
Heat Stability ◽  
Molecular Characteristics ◽  
Functional Studies ◽  
Leukocyte Alkaline Phosphatase ◽  
Severe Deficiency ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Increased Susceptibility

Abstract Molecular, kinetic, and functional studies were carried out on erythrocytes and leukocytes in a Spanish male with G6PD deficiency, congenital nonspherocytic hemolytic anemia (CNSHA), and increased susceptibility to infections. G6PD activity was absent in patient's red cells and was about 2% of normal in leukocytes. Molecular studies using standard methods (WHO, 1967) showed G6PD in the patient to have a slightly fast electrophoretic mobility at pH 8.0 with otherwise normal properties (heat stability at 46 degrees C, apparent affinity for substrates, optimum pH, and utilization of substrate analogues). Other tests showed the patient's granulocytes to engulf latex particles normally, but to have impaired reduction of nitroblue tetrazolium and ferricytochrome-c as well as reduced iodination. Chemotaxis and random migration of the patient's granulocytes were normal as were myeloperoxidase, leukocyte alkaline phosphatase (LAP), and ultrastructural features. The molecular characteristics of G6PD in the patient differed from those of all previously reported variants associated with CNSHA, so the present variant was provisionally called G6PD Barcelona to distinguish it from other G6PD variants previously described. Possible mechanisms for the severe deficiency of G6PD in erythrocytes and granulocytes was investigated by studies on the immunologic specific activity of the mutant enzyme.

scholarly journals Single-Dose Primaquine in a Preclinical Model of Glucose-6-Phosphate Dehydrogenase Deficiency: Implications for Use in Malaria Transmission-Blocking Programs

2016 ◽  
Vol 60 (10) ◽  
pp. 5906-5913 ◽  
Author(s):  
Kristina S. Wickham ◽  
Paul C. Baresel ◽  
Sean R. Marcsisin ◽  
Jason Sousa ◽  
Chau T. Vuong ◽  
...  
Keyword(s):  
Single Dose ◽  
Malaria Transmission ◽  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Safety Data ◽  
Vehicle Control ◽  
Control Group ◽  
Vehicle Control Group ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Dose Dependent

ABSTRACTIndividuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDd) are at risk for developing hemolytic anemia when given the antimalarial drug primaquine (PQ). The WHO Evidence Review Group released a report suggesting that mass administration of a single dose of PQ at 0.25 mg of base/kg of body weight (mpk) (mouse equivalent of 3.125 mpk) could potentially reduce malaria transmission based on its gametocytocidal activity and could be safely administered to G6PD-deficient individuals, but there are limited safety data available confirming the optimum single dose of PQ. A single-dose administration of PQ was therefore assessed in our huRBC-SCID mouse model used to predict hemolytic toxicity with respect to G6PD deficiency. In this model, nonobese diabetic (NOD)/SCID mice are engrafted with human red blood cells (huRBC) from donors with the African or Mediterranean variant of G6PDd (A-G6PDd or Med-G6PDd, respectively) and demonstrate dose-dependent sensitivity to PQ. In mice engrafted with A-G6PD-deficient huRBC, single-dose PQ at 3.125, 6.25, or 12.5 mpk had no significant loss of huRBC compared to the vehicle control group. In contrast, in mice engrafted with Med-G6PDd huRBC, a single dose of PQ at 3.125, 6.25, or 12.5 mpk resulted in a significant, dose-dependent loss of huRBC compared to the value for the vehicle control group. Our data suggest that administration of a single low dose of 0.25 mpk of PQ could induce hemolytic anemia in Med-G6PDd individuals but that use of single-dose PQ at 0.25 mpk as a gametocytocidal drug to block transmission would be safe in areas where A-G6PDd predominates.

scholarly journals Rasburicase-induced Hemolytic Anemia in an Adolescent With Unknown Glucose-6-Phosphate Dehydrogenase Deficiency

2017 ◽  
Vol 22 (6) ◽  
pp. 471-471 ◽  
Author(s):  
Manzilat Akande ◽  
Anthony N. Audino ◽  
Joseph D. Tobias
Keyword(s):  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Tumor Lysis Syndrome ◽  
Turnaround Time ◽  
Lymphoblastic Lymphoma ◽  
Test Results ◽  
Tumor Lysis ◽  
Prevention And Treatment ◽  
Glucose 6 Phosphate Dehydrogenase

Rasburicase, used in the prevention and treatment of tumor lysis syndrome (TLS), may cause hemolytic anemia and methemoglobinemia in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Although routine screening for G6PD deficiency has been recommended, given the turnaround time for test results and the urgency to treat TLS, such screening may not be feasible. We report a case of rasburicase-induced hemolytic anemia without methemoglobinemia in an adolescent with T-cell lymphoblastic lymphoma, TLS, and previously unrecognized G6PD deficiency. Previous reports of hemolytic anemia with rasburicase are reviewed, mechanisms discussed, and preventative strategies presented.

scholarly journals Effects of vitamin E supplementation on some aspects of hematological variables in patients of hemolytic anemia with glucose 6 phosphate dehydrogenase (G6PD) deficiency

1970 ◽  
pp. 12-17 ◽  
Author(s):  
Nayma Sultana ◽  
Noorzahan Begum ◽  
Shelina Begum ◽  
Sultana Ferdousi ◽  
Taskina Ali
Keyword(s):  
Vitamin E ◽  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Serum Bilirubin ◽  
Reticulocyte Count ◽  
Healthy Control ◽  
Hb Concentration ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Vitamin E Supplementation

Vitamin E works within the cell membrane as a biological antioxidant and may prevent premature destruction of RBC in Glucose 6-phosphate dehydrogenase (G6PD) deficient hemolytic anemia. Changes in some of the hematological variables like hemoglobin (Hb) concentration, total count (TC) of RBC, packed cell volume (PCV) and reticulocyte counts may occur due to hemolysis of RBC in G6PD deficiency In the present study the role of vitamin E supplementation on these changes were observed in reducing chronic hemolysis in anemic patients with glucose 6-phosphate dehydrogenase (G6PD) deficiency For this, a total number of 102 subjects with age ranged from 5 to 40 years of both sexes were included in the study Among them 68 were G6PD enzyme deficient patients, of whom 34 were in supplemented group (experimental group) and 34 were nonsupplemented group (control group). The supplemented group received vitamin E supplementation for 60 consecutive days at a dose of 800 IU/day for adult and 400 IU/day for children 5. 12 years (in a divided dose i,e. 4 times daily). Age and sex matched 34 apparently healthy subjects with normal blood G6PD level were taken to observe the baseline data (healthy control) and also for comparison. All the G6PD deficient patients were selected from Out Patient Department (OPD) of hematology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh during the period of July 2005 to June 2006 and all the healthy subjects were selected from personal contact. Blood G6PD level, Hb%, TC of RBC, PCV, reticulocyte count and serum bilirubin level of all subjects were measured by standard laboratory techniques. All the parameters were measured on day 1(one) of their 1st visit forall the groups and also were on day 60 in deficient group. Data were compared among the different groups, also in supplemented group just before and after supplementation. Analysis of data was done by appropriate statistical method. Mean blood Hb%, TC of RBC and PCV were significantly lower but reticulocyte count and serum bilirubin levels were significantly higher in patients suffering from hemolytic anemia due to G6PD deficiency in comparison to those of the healthy control. After supplementation with vitamin E (i.e. on day-60) Hb concentration, total count of RBC, PCV were significantly increased whereas, reticulocyte count and serum bilirubin levels were significantly decreased towards those of healthy control in supplemented group of patients in comparison to those of their pre-supplemented (day-1) and non-supplemented groups both on day-1 and day-60. Therefore, from this study it may be concluded that, deterioration of some of the hematological parameters occur in G6PD deficient hemolytic anemic patients, improvement of which occur following vitamin E supplementation, which clearly indicates the role of this antioxidant vitamin in reducing the rate of hemolysis in this group of patients. So, vitamin E supplementation can be considered along with other drugs to treat this group of patients. DOI: 10.3329/bjpp.v22i1.3563 Bangladesh J Physiol Pharmacol 2006; 22(1/2) : 12-17

scholarly journals Rapid quantitative assays for glucose-6-phosphate dehydrogenase (G6PD) and hemoglobin combined on a capillary-driven microfluidic chip

Lab on a Chip ◽  
2021 ◽  
Author(s):  
Marco Rocca ◽  
Yuksel Temiz ◽  
Marie Laetitia Salva ◽  
Samuel Castonguay ◽  
Thomas Gervais ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Microfluidic Chip ◽  
G6pd Deficiency ◽  
Metabolic Disorder ◽  
Rapid Tests ◽  
Glucose 6 Phosphate Dehydrogenase

Rapid tests for glucose-6-phosphate dehydrogenase (G6PD) are extremely important for determining G6PD deficiency, a widespread metabolic disorder which triggers hemolytic anemia in response to primaquine and tafenoquine medication, the most...

scholarly journals Investigation of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Prevalence in a Plasmodium vivax Endemic Area in the Republic of Korea (ROK)

2020 ◽  
Author(s):  
Wonsig Lee ◽  
Sang-Eun Lee ◽  
Kyung Tae Noh
Keyword(s):  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Republic Of Korea ◽  
Nucleotide Position ◽  
Malaria Chemoprophylaxis ◽  
The Republic ◽  
Blood Specimens ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Distribution Testing ◽  
Number Of Individuals

Abstract Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent inborn disorder. This X-chromosome-linked recessive disease affects more than 400 million people globally, and is associated with hemolytic anemia after medication with the anti-latent malaria drug, primaquine. To prevent malaria, the Republic of Korea (ROK) Army administers malaria chemoprophylaxis. Due to the previously low G6PD deficiency prevalence in the ROK, prior to primaquine distribution, testing for G6PD deficiency was not mandatory. Here, we investigate G6PD deficiency prevalence to evaluate the risk from malaria chemoprophylaxis.Methods: Blood specimens from 1,632 soldiers entering training camp for the 3rd Infantry of the ROK Army were collected. CareStart™ Biosensor for G6PD and Hemoglobin was used to detect G6PD levels. G6PD variants using the DiaPlexC G6PD Genotyping kit (Asian type) and full-length sequencing were examined.Results: Of 1,632 blood specimens tested, none were observed to be G6Pd deficient. The median value of all tested samples was 7.582 U/g Hb. An investigation of 170 G6PD DNA variants were analyzed and categorized as partially low (n=134, 30%–80% (2.27–6.05 U/g Hb) of the median value), high (n=3, >150% (>11.373 U/g Hb) of the median value), or normal (n=36, 4.6–13.5 U/g Hb), and none were amplified by the DiaPlexC kit. Five silent mutations (C→T) in 38 partially abnormal specimens were found at the 1311th nucleotide position by sequence analysis. Another 8 silent mutations (T93C) were also detected in 134 partially abnormal specimens. Thus, we inferred that these silent mutations could be related to G6PD deficiency.Conclusions: This G6PD deficiency prevalence study, conducted among participants from the 3rd Infantry of the ROK Army, provided crucial evidence for the safety of malaria chemoprophylaxis. Here, we found that the prevalence of G6PD deficiency among 1,632 young soldiers was nearly 0. Although G6PD phenotypic mutations were not detected, many silent mutations (C1311T and T93C) were observed. Thus, we inferred that malaria chemoprophylaxis is relatively safe against G6PD deficiency-mediated hemolytic anemia. However, given the number of individuals whose G6PD were at the low end of the normal range and the frequent detection of G6PD deficiency-related mutations, consistent monitoring of G6PD deficiency is needed.

scholarly journals Dental Considerations in Children with Glucose-6-phosphate Dehydrogenase Deficiency (Favism): A Review of the Literature and Case Report

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Daniela Hernández-Pérez ◽  
Claudia Butrón-Téllez Girón ◽  
Socorro Ruiz-Rodríguez ◽  
Arturo Garrocho-Rangel ◽  
Amaury Pozos-Guillén
Keyword(s):  
Case Report ◽  
Infectious Diseases ◽  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Present Report ◽  
Review Of The Literature ◽  
Oxidizing Agents ◽  
Dental Management ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an uncommon inherited enzyme deficiency characterized by hemolytic anemia, caused by the inability of erythrocytes to detoxify oxidizing agents such as drugs, infectious diseases, or fava bean ingestion. In this later case, the disorder is known as favism. The aim of the present report was to present a review of the literature in this disease, to describe a case report concerning an affected 9-year-old male, and to review the main implications and precautions in pediatric dental management.

scholarly journals Glucose-6-phosphate dehydrogenase deficiency

Blood ◽  
2020 ◽  
Vol 136 (11) ◽  
pp. 1225-1240 ◽  
Author(s):  
Lucio Luzzatto ◽  
Mwashungi Ally ◽  
Rosario Notaro
Keyword(s):  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Point Of Care ◽  
Diagnostic Procedures ◽  
Missense Mutations ◽  
The Stability ◽  
Almost All ◽  
Inherited Mutations ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Point Of Care Tests

Abstract Glucose 6-phosphate dehydrogenase (G6PD) deficiency is 1 of the commonest human enzymopathies, caused by inherited mutations of the X-linked gene G6PD. G6PD deficiency makes red cells highly vulnerable to oxidative damage, and therefore susceptible to hemolysis. Over 200 G6PD mutations are known: approximately one-half are polymorphic and therefore common in various populations. Some 500 million persons with any of these mutations are mostly asymptomatic throughout their lifetime; however, any of them may develop acute and sometimes very severe hemolytic anemia when triggered by ingestion of fava beans, by any of a number of drugs (for example, primaquine, rasburicase), or, more rarely, by infection. Approximately one-half of the G6PD mutations are instead sporadic: rare patients with these mutations present with chronic nonspherocytic hemolytic anemia. Almost all G6PD mutations are missense mutations, causing amino acid replacements that entail deficiency of G6PD enzyme activity: they compromise the stability of the protein, the catalytic activity is decreased, or a combination of both mechanisms occurs. Thus, genotype-phenotype correlations have been reasonably well clarified in many cases. G6PD deficiency correlates remarkably, in its geographic distribution, with past/present malaria endemicity: indeed, it is a unique example of an X-linked human polymorphism balanced through protection of heterozygotes from malaria mortality. Acute hemolytic anemia can be managed effectively provided it is promptly diagnosed. Reliable diagnostic procedures are available, with point-of-care tests becoming increasingly important where primaquine and its recently introduced analog tafenoquine are required for the elimination of malaria.

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.  

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