Valores de glucosa-6-fosfato deshidrogenasa y su repercusión en el número de sospechas de tamiz neonatal

Silva, Karla Maldonado; Trejo, Mirna Angélica Hinojosa; González, Itzı́ar; Amieva, Marcela Vela; Pérez, Luz del Alba Herrera; Parra, Guillermo Caamal; Huicab, Justo Eduardo Sulu; Flores, Erika Paola García

doi:10.18233/apm39no6pp47s-56s1721

Cited by 5 publications

(7 citation statements)

References 24 publications

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“…To prevent G6PD activity decay in dried blood spots (DBS) [ 22 ], all the samples were stored at -20 °C and analyzed 48 h after extraction. G6PD activity was determined by the fluorometric method using commercial kits (test kit 6199860, LabSystems Diagnostics Oy, Vantaa, Finland).…”

Section: Methodsmentioning

confidence: 99%

“…In Mexico, a country with nearly 2 million births annually ( https://www.inegi.org.mx/temas/natalidad/ ), the detection of G6PDd was added to the mandatory neonatal screening panel established by the Ministry of Health since 2015; this panel also includes congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia and cystic fibrosis [ 21 ]. The first results of the G6PDd Mexican screening program confirmed its regional disparity in prevalence, ranging from 0.2 to 20%, as well as the identified difficulties in classifying affected patients [ 22 ].…”

Section: Introductionmentioning

confidence: 99%

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Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

Vela-Amieva

Alcántara-Ortigoza

Ángel

et al. 2021

Orphanet J Rare Dis

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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: non-hospitalized with NNJ; and group 3: asymptomatic. Frequencies of homozygous UGT1A1*28 (rs34983651) genotypes among G6PDd patients with or without NNJ were also explored. 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 A−376G/968C (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). Homozygosity for UGT1A1*28 among G6PDd patients with (11.9%, N = 5/42) or without (10.3%, N = 4/39) NNJ did not shown significant statistical difference (p = 0.611). 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 > 10% of residual enzymatic activity and/or be associated with the common and mild G6PD A−376G/968C and G6PD A−202A/376G haplotypes.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

Vela-Amieva

Alcántara-Ortigoza

Ángel

et al. 2021

Orphanet J Rare Dis

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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 rate of 0.95% in general population of the northern states has been reported (García-Magallanes et al, 2014). Whereas the rate was 4.26% according to the national Newborn Screening (NBS) program, ranging from 0.2% to 21.0% in the south-eastern states of Yucatan and Veracruz, respectively (Maldonado-Silva et al, 2018). 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%).…”

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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“…Despite several publications regarding the results obtained for some G6PDd newborn screening programs, most of them are focused on its prevalence, cutoff and enzyme value distributions, and mutational spectrum [12][13][14]18], but few of them try to establish the phenotype-genotype correlation [19] [20]. The first results of the G6PDd Mexican screening program confirmed its regional disparity in prevalence, ranging from 0.2 to 20%, as well as the identified difficulties in classifying affected patients [21].…”

mentioning

confidence: 99%

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

Vela-Amieva

Alcántara-Ortigoza

Ángel

et al. 2020

Preprint

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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.

show abstract

Valores de glucosa-6-fosfato deshidrogenasa y su repercusión en el número de sospechas de tamiz neonatal

Cited by 5 publications

References 24 publications

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

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

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

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