Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population

Cantú-Reyna, Consuelo; Santos-Guzmán, Jesús; Cruz-Camino, Héctor; Vazquez-Cantu, Diana Laura; Gómez-Gutiérrez, René; Góngora-Cortéz, J.J.; Gutierrez-Castillo, Alejandro

doi:10.3233/npm-1831

Cited by 5 publications

(8 citation statements)

References 12 publications

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“…The prevalence of G6PD deficiency in males and females was 6.0 and 1.5%, respectively, in the same study [18]. Newborn screening in Mexican population revealed an incidence of 0.68% among males which is much lower compared to 7.58% in the present study [19]. Single copy of double mutation of G202A:A376G was detected in 97.22% of cases.…”

Section: Discussionsupporting

confidence: 56%

The Importance of Early Detection of Genetic Diseases

et al. 2021

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Background: Early detection of diseases in newborn may help in early intervention and treatment, which may either cure the disease or improve the outcome of the patient. Dubai’s Health Authority has a newborn screening program which includes screening for metabolic and genetic conditions, for hearing and vision, and for congenital heart disease. Objectives: The objectives of this study are to assess the outcome of the newborn genetic screening program, to correlate the association between the outcome of the program and demographic variables and to find out the percentage of the number of infants who were confirmed to have the genetic disease (by confirmatory tests) out of the total infants who had positive screening test results. Methods: During the period of the study from January 2018 to December 2018, a total of 7,027 newborns were tested in Dubai Health Authority facilities by the newborn genetic screening program (known as the “Step One Screening”). Blood samples were collected by heel prick on a collection paper. All samples were transported to PerkinElmer Genomics in the USA where the tests were done. The genetic disorders identified were correlated with different variables like gender and nationality. The data were entered in an excel sheet and analyzed by using SPSS software. All infants aged 0–3 months who have done newborn genetic screening at Dubai Health Authority facilities between January and December 2018 were included. Results: The incidence of screened disorders was 1:7,027 for congenital adrenal hyperplasia, 1:1,757 for congenital hypothyroidism, 1:1,757 for inborn errors of metabolism, 1:2,342 for biotinidase deficiency, 1:1,171 for hemoglobinopathies, 1:12 for hemoglobinopathy traits, and 1:10 for different genetic mutations of G6PD deficiency. Conclusions: There is a high incidence of different genetic diseases detected by newborn screening. These results justify unifying the program in the UAE and preventive programs like premarital screening and genetic counseling.

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Section: Discussionsupporting

confidence: 56%

The Importance of Early Detection of Genetic Diseases

et al. 2021

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“…However, studies in Curaçao, Ecuador, Jamaica, Saint Lucia, Suriname, and Trinidad, as well as in some areas of Brazil, Colombia, and Cuba, showed a prevalence as high as 10% [8]. The African A– variant is the most common cause of G6PD deficiency in Hispanic populations (between 80 and 97% of cases) [8, 9]. Thus, in a male neonate with unexplained hemolytic jaundice, and parents of Latin American decent, such as ours, the diagnosis of G6PD deficiency should be considered.…”

Section: Discussionmentioning

confidence: 99%

“…His ETCOc was markedly elevated at 5.9 ppm (normal <1.7 ppm during the first week of life), indicating hemolysis, because each molecule of heme metabolized to biliverdin releases 1 molecule of CO. His mother was of Mexican ancestry and his father of Ecuadorian ancestry. Though the prevalence of G6PD deficiency is low in Hispanic populations [8,9], a blood sample was sent from the neonate to the reference DOI: 10.1159/000510300 laboratory for G6PD enzyme quantification and subsequent sequencing.…”

Section: Case Reportmentioning

confidence: 99%

A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

et al. 2020

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We report a novel glucose-6-phosphate dehydrogenase (G6PD) variant (c.1375C>G) discovered in a 3-day-old Hispanic male child from Salt Lake City, UT, USA. This newborn presented with severe hyperbilirubinemia (29.8 mg/dL or 510 μmol/L) and marked hemolysis evidenced by elevated end-tidal carbon monoxide concentration (5.9 ppm, normal <1.7 ppm). Despite a very low prevalence of G6PD deficiency in Hispanic populations, we pursued testing for this condition and found he had low erythrocyte G6PD enzyme activity (2.8 U/g Hb, normal 9.9–16.6 U/g Hb) and a novel G6PD variant. His mother was heterozygous for this same variant, and she had a moderate decrease in G6PD enzyme activity (7.1 U/g Hb). On the basis of these findings, we propose this variant as a novel pathogenic mutation.

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“…In Mexico, G6PD deficiency has been broadly studied and its estimated prevalence is 4.26% according to the national NBS program (Maldonado-Silva et al, 2018). NBS program data indicates that G6PD A −202A/376G is the most frequent variant and is observed in 58.0% of cases, while other studies report this variant to have a frequency of 78.6% and 97.2% (García-Magallanes et al, 2014;Cantú-Reyna et al, 2019).…”

Section: G6pd Variants In Mexicansmentioning

confidence: 99%

“…A total of 22 variants have been detected in Mexicans; two variants account for 88.7% of cases: G6PD A −202A/376G (c.202G>A/c.376A>G) (68.9%) and G6PD A −376G/968C (c.376A>G/c.968T>C) (19.8%). These are followed in frequency by G6PD Santamaria 376G/542T (c.376A>G/c.542A>T) and G6PD Seattle 844C (c.844G>C) at 2.2% each (Medina et al, 1997;Vaca et al, 2002;Vaca et al, 2003;García-Magallanes et al, 2014;Cantú-Reyna et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia

Herrera-Tirado

Hernández-Peña

Ibarra-Cortés

et al. 2021

Annals of Human Genetics

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Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, hereditary spherocytosis (HS), and alpha thalassemia (α-thal) are frequent erythrocyte pathologies with different geographic distributions worldwide. Our aim is to report hematological and molecular findings of G6PD deficient Mexican patients in coinheritance with suggestive hereditary spherocytosis (sHS) and α-thal. Methods: We studied 78 G6PD deficiency patients. Hematological parameters, acidified glycerol lysis test, erythrocyte morphology, electrophoresis, and hemoglobin quantification were obtained. G6PD and HBA2/HBA1 variants were identified using ARMS-PCR, Gap-PCR, or Sanger sequencing.Results: Nine G6PD variants were identified; A -202A/376G , A -376G/968C , and A +376G as the most frequent. G6PD Santiago de Cuba 1339A and Kamiube 1387T were detected in Mexicans for first time. Hematological analysis revealed additional erythrocyte pathologies in 52 patients, 32 with positive osmotic fragility test and spherocytes in blood smear (suggestive hereditary spherocytosis, sHS), 12 with microcytosis and 8 with all three defects who had the most severe phenotype, with significantly lower hematological parameters (Hb, PCV, MCV, and MCH). α-thal variants (α Hph α, α -59C>T α and -α 3.7 ) were observed in 65% of patients with microcytosis. Conclusion:Additional erythrocyte defects were observed in 69.3% of G6PD deficiency patients. We stress the importance of searching for the presence of additional erythrocyte hereditary diseases in patients with G6PD deficiency.

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Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population

Cited by 5 publications

References 12 publications

The Importance of Early Detection of Genetic Diseases

The Importance of Early Detection of Genetic Diseases

A Novel Variant in <b><i>G6PD</i></b> (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia

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Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population

Cited by 5 publications

References 12 publications

The Importance of Early Detection of Genetic Diseases

The Importance of Early Detection of Genetic Diseases

A Novel Variant in <b><i>G6PD</i></b> (c.1375C&#x3e;G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia

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A Novel Variant in <b><i>G6PD</i></b> (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity