scholarly journals Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Chunyun Fu ◽  
Shiyu Luo ◽  
Qifei Li ◽  
Bobo Xie ◽  
Qi Yang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Heterozygous Female ◽  
Optimal Cutoff ◽  
Cutoff Value ◽  
Glucose 6 Phosphate Dehydrogenase

Determination of optimal cutoff value to accurately identify glucose-6-phosphate dehydrogenase-deficient heterozygous female neonates

2013 ◽  
Vol 424 ◽  
pp. 131-135 ◽  
Author(s):  
Jing-Kun Miao ◽  
Qi-Xiong Chen ◽  
Li-Ming Bao ◽  
Yi Huang ◽  
Juan Zhang ◽  
...  
Keyword(s):  
Heterozygous Female ◽  
Optimal Cutoff ◽  
Cutoff Value ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Genetic Spectrum and Clinical Early Natural History of Glucose-6-Phosphate Dehydrogenase Deficiency in Mexican Children Detected Through Newborn Screening.

2020 ◽  
Author(s):  
Marcela Vela-Amieva ◽  
Miguel Ángel Alcántara-Ortigoza ◽  
Ariadna González del Angel ◽  
Leticia Martínez-Belmont ◽  
Carlos López-Candiani ◽  
...  
Keyword(s):  
Natural History ◽  
Enzymatic Activity ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Birth Prevalence ◽  
Wide Range ◽  
Wide Variability ◽  
Group 2 ◽  
Prediction Of Complications ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression as well as the lack of enough knowledge on its natural history. Herein, we describe the early natural clinical course and the underlying GDPD genotypes in infants with G6PDd detected by newborn screening and later studied in a single follow-up center. G6PDd newborns were categorized into three groups: group 1: hospitalized with or without neonatal jaundice (NNJ); group 2: nonhospitalized with NNJ; and group 3: asymptomatic. Results: A total of 81 newborns (80 males, one female) were included. Most individuals (46.9%) had NNJ without other symptoms, followed by asymptomatic (42.0%) and hospitalized (11.1%) patients, although the hospitalization of only 3 of these patients was related to G6PDd, including NNJ or acute hemolytic anemia (AHA). Nine different G6PDd genotypes were found; the G6PD A− 202A/376G genotype was the most frequent (60.5%), followed by the G6PD 376G/542T (Santamaria, 22.2%) and the Union-Maewo (rs398123546, 7.4%) genotypes. These genotypes produce a wide range of clinical and biochemical phenotypes with significant overlapping residual enzymatic activity values among class I, II or III variants. Some G6PD A− 202A/376G individuals had enzymatic values that were close to the cutoff value (5.3 U/g Hb, 4.6 and 4.8 U/g Hb in the groups with and without NNJ, respectively), while others showed extremely low enzymatic values (1.1 U/g Hb and 1.4 U/g Hb in the groups with and without NNJ, respectively). Conclusion: Wide variability in residual enzymatic activity was noted in G6PDd individuals with the same G6PD genotype. This feature, along with a documented heterogeneous mutational spectrum, makes it difficult to categorize G6PD variants according to current WHO classification and precludes the prediction of complications such as AHA, which can occur even with residual enzymatic activity (>10%) and/or be associated with the common and mild G6PD A− 376G/968C and G6PD A− 202A/376G haplotypes.

Erythrocytary Glucose-6-Phosphate Dehydrogenase Deficiency – Study on its distribution in the province of Ferrara and its relation to malaria and thalassemia

1969 ◽  
Vol 18 (3) ◽  
pp. 271-284 ◽  
Author(s):  
E. Gandini ◽  
C. Menini ◽  
A. De Filippis ◽  
G. Dell'Acqua
Keyword(s):  
Gene Frequency ◽  
Dehydrogenase Deficiency ◽  
Brilliant Cresyl Blue ◽  
Cresyl Blue ◽  
The Past ◽  
Blue Discoloration ◽  
Thalassemia Trait ◽  
The One ◽  
Glucose 6 Phosphate Dehydrogenase

SUMMARYThe distribution of G6PD-D in the Ferrara country has been studied by means of the Brilliant Cresyl Blue discoloration test: 2437 males have been tested in 11 localities.The highest gene frequency of G6PD-D observed is consistent with the one expected after 25-30 generations of malaria selection, assuming an increased fitness of the heterozygotes, as it has been shown in computer simulated evolutionary trends for sex-linked genes. The thalassemia trait has also been shown to be very frequent in the same localities; its frequency is correlated with G6PD-D gene frequency and with the incidence of malaria in the past (1900).G6PD-D frequency is not significantly correlated with malaria. Such a result is due to the significantly lower gene frequency of G6PD-D observed in the localities where the percentage of population affected by malaria was higher (40-60%). On the other hand, G6PD-D is frequently significantly correlated with malaria in the remaining localities where the incidence of the latter ranged from 0 to 35% of the affected population.The mechanisms possibly involved in the determination of this distribution of G6PD-D are discussed.

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.

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