scholarly journals Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations

2021 ◽  
Vol 12 ◽  
Author(s):  
Xudong Wang ◽  
Zhongmin Xia ◽  
Ying He ◽  
Xiaoman Zhou ◽  
Haixia Zhang ◽  
...  
Keyword(s):  
High Risk ◽  
Newborn Screening ◽  
G6pd Deficiency ◽  
Cold Chain ◽  
Compound Heterozygous ◽  
Compound Heterozygous Variants ◽  
Screening Accuracy ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Fluorescent Spot ◽  
Enzymatic Defect

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzymatic defect. The purpose of this study was to evaluate the profile of G6PD deficiency and investigate the factors associated with the accuracy of newborn screening (NBS) in Xiamen, China.Methods: A total of 99,546 newborns were screened by modified fluorescent spot test at the Women and Children’s Hospital, Xiamen University. High-risk neonates were recalled for diagnosis by either a measurement of G6PD activity or genetic testing for the presence of pathogenic G6PD variants using a quantitative G6PD enzymatic assay or the MeltPro® G6PD assay, respectively.Results: In the first-tier screening, 1,256 newborns were categorized as high risk. Of these, 1,051 were diagnosed with G6PD deficiency, indicating a prevalence of 1.39% in Xiamen, China. Among the 1,013 neonates who underwent genotyping, 851 carried hemizygous, heterozygous, homozygous, or compound heterozygous variants, for a positive predictive value (PPV) of 84.01%. In total, 12 variants and 32 genotypes were identified, and the six most common variants were c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, c.871G>A, and c.392G>T, which accounted for approximately 94% of the identified alleles. Different variants showed characteristic enzymatic activities, although high phenotypic heterogeneity was observed for each variant. The use of cold-chain transportation significantly improved the PPV of NBS.Conclusions: We determined the profile of G6PD deficiency in Xiamen, including the prevalence, variant spectrum, and genotype-phenotype correlations and confirmed that maintaining a low temperature during sample transport is essential to ensure the high screening accuracy of NBS. Our data provides epidemiological, genotypic, phenotypic, and clinical practice references to standardize future interventions for G6PD deficiency.

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 Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India

2019 ◽  
Vol 09 (01) ◽  
pp. 040-044 ◽  
Author(s):  
Jyotsna Verma ◽  
Papai Roy ◽  
Divya C. Thomas ◽  
Geetu Jhingan ◽  
Azad Singh ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
G6pd Deficiency ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Adverse Outcomes ◽  
Adrenal Hyperplasia ◽  
Birth Prevalence ◽  
Glucose 6 Phosphate Dehydrogenase

AbstractNewborn screening (NBS) aims toward early detection of treatable congenital disorders. From January 2008 through December 2017, 13,376 newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and glucose-6-phosphate dehydrogenase (G6PD) deficiency at Sir Ganga Ram Hospital, India, by measuring G6PD activity, thyroid-stimulating hormone, and 17-hydroxyprogesterone on dried blood specimens. The birth prevalence of 1:2,000 for CH, 1:2,500 for CAH, and 1:125 for G6PD deficiency indicates the latter as the most prevalent. Performance evaluation of testing reveals a robust screening program with 100% sensitivity and >99% specificity. Hence, we recommend NBS for early diagnosis and treatment to prevent adverse outcomes.

scholarly journals Prevalence of glucose 6 phosphate dehydrogenase (G6PD) deficiency in a community by newborn screening

2017 ◽  
Vol 4 (3) ◽  
pp. 1018
Author(s):  
Md Khaja Moinuddin ◽  
Vijayalaxmi Gagandeep ◽  
Seeta Mutalik
Keyword(s):  
Newborn Screening ◽  
G6pd Deficiency ◽  
Prospective Observational Study ◽  
Genetic Disorder ◽  
Molecular Heterogeneity ◽  
Medical College ◽  
Fava Beans ◽  
The Difference ◽  
Severe Jaundice ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Glucose 6 phosphate dehydrogenase deficiency is a genetic disorder and incidence 400 million per year globally. It is X-linked inherited disorder affect males and rarely females also by lyonisation. Characterized by significant biochemical and molecular heterogeneity. Known for its grave complications like hemolysis, severe anemia, failure and severe jaundice following ingestion of fava beans and certain drugs. Prevalent in certain communities of India, hence routine newborn screening and Detection of g6pd deficiency is important to prevent grave complications.Methods: Prospective observational study carried out at Vani Vilas Children’s hospital attached Bangalore Medical college and research institute, from January 2016 to September 2016. All the newborns born at Vani Vilas Hospial included in the study by routine newborn screening.Results: A total of 9,136 neonates were included in this study. There were 5,013 males and 4,123 females. 37 neonates were found to be G-6-PD deficient, prevalence being 0.40%. The difference in the prevalence of G-6-PD deficiency in males 0.57% (n=29) and females 0.19% (n=8) was significant (p <0.002).Conclusions: Significant prevalence of g6pd in India. In our study, we found 1 G6PD deficiency in per 1000 population. Hence, we recommend screening for G6PD deficiency in all the newborns to prevent complications in future. 

scholarly journals Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening

2000 ◽  
Vol 7 (1) ◽  
pp. 46-51 ◽  
Author(s):  
G.J. Reclos ◽  
C.J. Hatzidakis ◽  
K.H. Schulpis
Keyword(s):  
High Risk ◽  
General Population ◽  
Enzymatic Activity ◽  
G6pd Deficiency ◽  
Preliminary Evidence ◽  
High Risk Population ◽  
Quantitative Test ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Semiquantitative Method ◽  
Athens Area

Objectives To provide preliminary evidence that the currently employed semiquantitative method of screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency can only detect infants who are totally deficient for G6PD and misses all cases of partial G6PD deficiency. Setting General population: 2150 randomly selected blood samples from the Blood Donation Department, Speliopouleion General Hospital, Athens, Greece. Neonate population: 2000 samples from neonates (50% male; 50% female) in maternity hospitals in the greater Athens area. High risk population: a total of 545 individuals from 133 families in the Athens area, the minimum acceptance criteria being the parents and any brother or sister. Method Blood specimens from neonates or adults were collected and either spotted and dried on special filter paper (Schleicher and Schull 2992, Darmstadt, Germany) or used in tubes after being heparinised. For the quantitative evaluation of G6PD enzyme activity, the Quantase G6PD screening kit (Quantase Limited, Perth, UK) was used. Quantase G6PD controls (Quantase Limited) were used at three levels of G6PD. These controls are rated at 24, 30, and 37°C. Alternatively, we used the Sigma G6PDH controls (Sigma Chemical Company, St Louis, USA) which are rated at 30 and 37°C. The assay was performed according to the instructions included in the kit with the modification for haemoglobin normalisation. Results General population: 36 females who were classified as having normal enzymatic activity with the semiquantitative test, were classified as partially deficient with the quantitative test. Neonate population: using the quantitative test, the percentage of G6PD deficient neonates in this population was 5.5%, compared with 3.17% reported in routine screening using the semiquantitative method. High risk population: the quantitative method detected 28 cases of total or partial G6PD deficiency in sisters of males with known total deficiency. The semiquantitative method only detected 32% (nine out of 28) of these cases. Conclusions A considerable amount of partially G6PD deficient female neonates (heterozygotes) are undetected and classified as having normal enzymatic activity using the semiquantitative method, which uses a cut off of 2.1 U/g haemoglobin (Hb). The use of a fully quantitative G6PD screening kit is proposed, employing the automated haemoglobin normalisation and a cut off of 6.4 U/g Hb. Any neonate with an activity below this mark should be regarded as G6PD deficient, and all preventive measures should be taken.

Methemoglobinemia induced by rasburicase in a pediatric patient: A case report and literature review

2011 ◽  
Vol 18 (4) ◽  
pp. 425-431 ◽  
Author(s):  
John S Ng ◽  
Elisa M Edwards ◽  
Tosha A Egelund
Keyword(s):  
High Risk ◽  
G6pd Deficiency ◽  
Pediatric Patients ◽  
Tumor Lysis Syndrome ◽  
Turnaround Time ◽  
Urate Oxidase ◽  
Life Threatening ◽  
Oxidase Enzyme ◽  
Deficiency Screening ◽  
Glucose 6 Phosphate Dehydrogenase

Rasburicase is a recombinant urate oxidase enzyme indicated for tumor lysis syndrome (TLS), a potential life-threatening oncologic emergency that occurs most commonly during chemotherapy for hematological malignancies. As a result of the defects in the physiological antioxidant pathway, erythrocytes of patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency are not protected against the oxidating stress exerted by hydrogen peroxide generated with the administration of rasburicase. Therefore, rasburicase is contraindicated in patients with known G6PD deficiency and the manufacturer recommends screening all patients with high risk for G6PD deficiency before initiating rasburicase therapy. However, it is logistically difficult in clinical settings because of the high risk of morbidity and mortality associated with TLS if treatment is delayed and the long turnaround time of the G6PD deficiency screening. Therefore, administering rasburicase to patients developing TLS before confirming a patient’s G6PD status is practically inevitable. Methemoglobinemia, and/or hemolysis, may result from the oxidative stress. Descriptions of the clinical course should it happen are limited in the literature. There are eight reported cases of rasburicase-related methemoglobinemia, with or without hemolytic anemia, in the literature of which five are pediatric patients. Six reports (including three pediatric patients) had detailed descriptions of the event and management. The recent reports of methemoglobinemia observed in patients with probable G6PD activity further complicated the picture. We are reporting a 16-year-old patient diagnosed with Burkitt’s lymphoma who developed methemoglobinemia after receiving one dose of rasburicase. He was managed by transfusion and oxygen support. The patient recovered well and the observed methemoglobinemia was reversible.

scholarly journals Anestesia y Déficit de glucosa-6-fosfato deshidrogenasa. Revisión a propósito de un caso.

2019 ◽  
Vol 11 (11) ◽  
pp. 1
Author(s):  
Yaiza Beatriz Molero Diez ◽  
José Luis González Rodríguez
Keyword(s):  
Pentose Phosphate Pathway ◽  
Blood Cells ◽  
G6pd Deficiency ◽  
Clinical Case ◽  
Pentose Phosphate ◽  
Case Review ◽  
Hemolytic Crisis ◽  
General Abstract ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Enzymatic Defect

El déficit de glucosa-6-fosfato deshidrogenasa es el defecto enzimático más frecuente de los glóbulos rojos en los seres humanos. Esta alteración está relacionada con un defecto enzimático en la vía de las pentosas-fosfato y cursa con hemólisis. Evitar posibles desencadenantes de las crisis hemolíticas es la mejor estrategia de prevención; para ello, el anestesiólogo tiene que conocer adecuadamente los fármacos empleados para el procedimiento anestésico y cuales son aptos para su empleo en estos pacientes. Se presenta en el artículo una revisión sobre este déficit a propósito de un caso de un paciente que acude a someterse a una intervención quirúrgica con anestesia general. ABSTRACT Anesthesia and glucose-6-phosphate-dehydrogenase deficit. A case review The glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of the red blood cells in humans. This disorder is related with an enzymatic defect in the pentose-phosphate pathway which is characterized by hemolysis. The best prevention strategy is avoiding possible triggers of hemolytic crisis, for this purpose the anesthesiologist must know properly the drugs used in anesthesia that are suitable for using in these patients. We present in the article a review of this deficit by using a clinical case of a patient who goes to the operating room with general anesthesia.

scholarly journals Glucose-6 phosphate dehydrogenase deficiency and newborn screening

2020 ◽  
Vol 8 (12) ◽  
pp. 4538
Author(s):  
Samapika Bhaumik ◽  
Suprava Patel ◽  
Phalguni Padhi
Keyword(s):  
Newborn Screening ◽  
Distribution Pattern ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Genetic Disorders ◽  
Tribal Population ◽  
Study Results ◽  
The World ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Parental Counselling

Glucose-6 phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder causing breakdown of RBCs. It affects over 400 million people, making it the most common enzymopathy in the world. It leads to hereditary predisposition to hemolysis. In India, various study results reveal an incidence ranging from 2 to 27.9% in different communities. It is known globally for its genetic and phenotypic heterogeneity with 13 biochemically characterized variants have been reported from India, G6PD Mediterranean being the most common. It is mostly asymptomatic but certain triggers like infections, some medications, chemicals, stress or food may precipitate hemolysis. It is important to understand the epidemiology and distribution pattern in India because of its higher prevalence in tribal population who are more prone for malaria. Irrational use of drugs for malaria treatment has attributed high mortality especially neonatal mortality, in this community. Newborn screening is one of the best options to diagnose the case at neonatal age. Implementation of newborn screening would aid in identifying the genetic disorders in order to provide comprehensive care along with parental counselling to reduce the complications associated with it.

scholarly journals G6PD Deficiency Overrepresented Among Pediatric COVID-19 Cases in One Saudi Children Hospital

2020 ◽  
Author(s):  
Maryam Al-Aamri ◽  
Fatima Al-Khalifa ◽  
Fawatim Al-Nahwi ◽  
Heba Al-Ameer ◽  
Sameer Al-Abdi
Keyword(s):  
G6pd Deficiency ◽  
Spot Test ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Fluorescent Spot

Fluorescent spot test for glucose-6-phosphate dehydrogenase (G6PD) deficiency was performed in 5 boys and 14 girls who had confirmed COVID-19. Out of those, 4 (80%) boys and 5 (36%) girls were found to be G6PD deficient.

scholarly journals Glucose-6-Phosphate Dehydrogenase Status and Risk of Hemolysis in Plasmodium falciparum-Infected African Children Receiving Single-Dose Primaquine

2014 ◽  
Vol 58 (8) ◽  
pp. 4971-4973 ◽  
Author(s):  
Alice C. Eziefula ◽  
Helmi Pett ◽  
Lynn Grignard ◽  
Salome Opus ◽  
Moses Kiggundu ◽  
...  
Keyword(s):  
Plasmodium Falciparum ◽  
Single Dose ◽  
Falciparum Malaria ◽  
G6pd Deficiency ◽  
Spot Test ◽  
Enzyme Function ◽  
Severe Anemia ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Fluorescent Spot ◽  
Dose Dependent

ABSTRACTGlucose-6-phosphate dehydrogenase (G6PD) enzyme function and genotype were determined in Ugandan children with uncomplicated falciparum malaria enrolled in a primaquine trial after exclusion of severe G6PD deficiency by fluorescent spot test. G6PD A− heterozygotes and hemizygotes/homozygotes experienced dose-dependent lower hemoglobin concentrations after treatment. No severe anemia was observed.

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