Economic evaluation of point of care universal newborn screening for glucose-6-Phosphate dehydrogenase deficiency in United States

2021 ◽  
pp. 1-9
Author(s):  
Ramesh Vidavalur ◽  
Vinod K Bhutani
Keyword(s):  
United States ◽  
Economic Evaluation ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Point Of Care ◽  
Glucose 6 Phosphate Dehydrogenase

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.

scholarly journals Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States?

2013 ◽  
Vol 33 (7) ◽  
pp. 499-504 ◽  
Author(s):  
J F Watchko ◽  
M Kaplan ◽  
A R Stark ◽  
D K Stevenson ◽  
V K Bhutani
Keyword(s):  
United States ◽  
Dehydrogenase Deficiency ◽  
The United States ◽  
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.

scholarly journals Economic Evaluation of FebriDx®: A Novel Rapid, Point-of-Care Test for Differentiation of Viral versus Bacterial Acute Respiratory Infection in the United States

2021 ◽  
Vol 8 (2) ◽  
pp. 56-62
Author(s):  
Katherine Dick ◽  
John Schneider
Keyword(s):  
United States ◽  
Economic Evaluation ◽  
Antibiotic Treatment ◽  
Bacterial Infections ◽  
Point Of Care ◽  
The United States ◽  
Antibiotic Prescribing ◽  
Point Of Care Testing ◽  
Antibiotic Resistant ◽  
Point Of Care Test

Background: Acute respiratory infections (ARIs) are commonly treated with antibiotics in outpatient settings, but many infections are caused by viruses and antibiotic treatment is therefore inappropriate. FebriDx®, a rapid point-of-care test that can differentiate viral from bacterial infections, can inform antibiotic treatment decisions. Objectives: The primary aim of this study is to conduct a literature-based US economic evaluation of a novel rapid point-of-care test, FebriDx®, that simultaneously measures two key infection biomarkers, C-reactive protein (CRP) and\ Myxovirus resistance protein A (MxA), to accurately differentiate viral from bacterial infection. Methods: A budget impact model was developed based on a review of published literature on antibiotic prescribing for ARIs in the United States. The model considers the cost of antibiotic treatment, antibiotic resistant infections, antibiotic-related adverse events, and point-of-care testing. These costs were extrapolated to estimate savings on a national level. Results: The expected national cost to treat ARIs under standard of care was US $8.25 billion, whereas the expected national cost of FebriDx point-of-care-guided ARI treatment was US $5.74 billion. Therefore, the expected national savings associated with FebriDx® rapid point-of-care testing was US $2.51 billion annually. Conclusions: FebriDx, a point of care test that can reliably aid in the differentiation of viral and bacterial infections, can reduce antibiotic misuse and, therefore, antibiotic resistant infections. This results in significant cost savings, driven primarily by the reduction in antibiotic resistant infections.

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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