OBJECTIVE: To analyze the distribution characteristics of glucose-6-phosphate-dehydrogenase (G6PD) mutations and their enzyme activity in newborns patients with G6PD deficiency in Guilin region. METHODS: From July 2022 to July 2024, umbilical cord blood samples from 4 554 newborns in Guilin were analyzed for G6PD mutations using fluorescence PCR melting curve analysis. Enzyme activity was detected in 4 467 cases using the rate assay. RESULTS: Among 4 467 newborns who underwent G6PD activity testing, 162 newborns (3.63%) were identified as G6PD-deficient, including 142 males (6.04%) and 20 females (0.94%), the prevalence of G6PD deficiency was significantly higher in males than in females (P < 0.001). Genetic analysis of 4 554 newborns detected G6PD mutations in 410 cases (9%), including 171 males (7.13%) and 239 females (11.09%), with a significantly higher mutation detection rate in females than in males (P < 0.001). A total of nine single mutations and four compound heterozygous mutations were identified. The most common mutations were c.1388G>A (33.66%), c.1376G>T (23.66%) and c.95A>G (16.34%). Among newborns who underwent both enzyme activity and genetic mutation testing, males with G6PD mutations had significantly lower enzyme activity than that of females with G6PD mutations(P < 0.001). Specifically, among newborns carrying the mutations c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T or c.871G>A, males consistently exhibited lower enzymatic activity than females with the same mutations (P < 0.001). Furthermore, in male G6PD-deficient newborns, the enzyme activity levels in those carrying c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T, or c.871G>A were lower than those in both the control group and the c.519C>T group (P < 0.05). CONCLUSION This study provides a comprehensive profile of G6PD deficiency incidence and mutation spectrum in the Guilin region. By analyzing enzyme activity and genetic mutation results, this study provides insights into potential intervention strategies and personalized management approaches for the prevention and treatment of neonatal G6PD deficiency in the region.
Humans ; Infant, Newborn ; Glucosephosphate Dehydrogenase Deficiency/epidemiology* ; Glucosephosphate Dehydrogenase/genetics* ; Female ; Male ; Mutation ; China/epidemiology*

Background: As social media continue to grow as popular and convenient tools for acquiring and disseminating health information, the need to investigate its utilization by laypersons encountering common medical issues becomes increasingly essential. Objectives: This study aimed to analyze the content posted in Facebook groups for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and how these engage the members of the group. Methods: This study employed an inductive content analysis of user-posted content in both public and private Facebook groups catering specifically to G6PD deficiency. The G6PD Facebook groups with 10 or more posts within the past 12 months were selected for this study. Data were harvested from posts and comments using ExportComment. Results: A total of 46 G6PD-related Facebook groups were identified. Of which, 19 were public and 27 were private groups, with an average membership of 5000-6000 accounts. After eligibility based on criteria and authorization for private groups, 3 public and 3 private groups were included, with the majority of these groups focused on sharing information. Five main themes of posted content were identified: diagnosis, management, beliefs, psychosocial factors, and medical requirements. “Diagnosis”-related posts referred to conversations about the causes and symptoms of G6PD, “management” referred to medication or diet, “beliefs” involved traditional or lay perceptions, “psychosocial factors” referred to posts that disclosed how psychosocial factors influenced G6PD deficiency practices, and “medical requirements” referred to documentation regarding the condition. The bulk of these posts used three strategies for communication: information-requesting, self-disclosure, and promotion of products/services. Information requests were the most common. Conclusion The results of the study showed opportunities and challenges in health education on G6PD, especially in evaluating the credibility and accuracy of the information given and received. Looking at the content and manner of communicating information noted, the newborn screening program may improve its advocacy and education campaign, and may develop targeted educational materials and effective dissemination strategies that could clarify, explain, or refute information and beliefs mostly shared on these platforms.
Glucosephosphate Dehydrogenase Deficiency ; Self-Help Groups

BACKGROUND

As social media continue to grow as popular and convenient tools for acquiring and disseminating health information, the need to investigate its utilization by laypersons encountering common medical issues becomes increasingly essential.

This study aimed to analyze the content posted in Facebook groups for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and how these engage the members of the group.

This study employed an inductive content analysis of user-posted content in both public and private Facebook groups catering specifically to G6PD deficiency. The G6PD Facebook groups with 10 or more posts within the past 12 months were selected for this study. Data were harvested from posts and comments using ExportComment.

A total of 46 G6PD-related Facebook groups were identified. Of which, 19 were public and 27 were private groups, with an average membership of 5000-6000 accounts. After eligibility based on criteria and authorization for private groups, 3 public and 3 private groups were included, with the majority of these groups focused on sharing information. Five main themes of posted content were identified: diagnosis, management, beliefs, psychosocial factors, and medical requirements. “Diagnosis”-related posts referred to conversations about the causes and symptoms of G6PD, “management” referred to medication or diet, “beliefs” involved traditional or lay perceptions, “psychosocial factors” referred to posts that disclosed how psychosocial factors influenced G6PD deficiency practices, and “medical requirements” referred to documentation regarding the condition. The bulk of these posts used three strategies for communication: information-requesting, self-disclosure, and promotion of products/services. Information requests were the most common.

The results of the study showed opportunities and challenges in health education on G6PD, especially in evaluating the credibility and accuracy of the information given and received. Looking at the content and manner of communicating information noted, the newborn screening program may improve its advocacy and education campaign, and may develop targeted educational materials and effective dissemination strategies that could clarify, explain, or refute information and beliefs mostly shared on these platforms.

Congenital disorders cause a global estimate of 240,000 deaths in newborns and 170,000 deaths in children ages 1 month up to 5 years every year. 1 In order to detect metabolic, hematologic, or endocrine disorders in newborns, newborn screening (NBS) is conducted in many countries around the world. In the Philippines, NBS was introduced by the Newborn Screening Study Group in 1996, with the aim of establishing the incidence of six metabolic conditions, namely, congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, homocystinuria, and glucose-6-phosphate dehydrogenase deficiency, and creating recommendations for the adoption of NBS nationwide.2 The Republic Act No. 9288, otherwise known as the Newborn Screening Act of 2004, requires that the Department of Health shall ensure the establishment and accreditation of newborn screening centers (NSCs) in strategically located areas across the Philippines.3 At present, there are seven operational NSCs in the country,4 with the Newborn Screening Center-Mindanao (NSC-Mindanao) in Southern Philippines Medical Center (SPMC) as the only center catering to all NBS facilities all over Mindanao.5 NSC-Mindanao initially performed screening tests for five disorders, but now tests for a panel of 29 metabolic and other congenital disorders.
Neonatal Screening ; Adrenal Hyperplasia, Congenital ; Glucosephosphate Dehydrogenase Deficiency ; Congenital Hypothyroidism

OBJECTIVE: To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases. METHODS: A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis. HTS was carried out to detect the definite pathogenic variant sites with high-frequency of 135 disease-related genes. Candidate variants were verified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). RESULTS: Among the 2 060 newborns, 31 were diagnosed with genetic diseases, 557 were found to be carriers, and 1 472 were negative. Among the 31 neonates, 5 had G6PD, 19 had hereditary non-syndromic deafness due to variants of GJB2, GJB3 and MT-RNR1 genes, 2 had PAH gene variants, 1 had GAA gene variants, 1 had SMN1 gene variants, 2 had MTTL1 gene variants, and 1 had GH1 gene variants. Clinically, 1 child had Spinal muscular atrophy (SMA), 1 had Glycogen storage disease II, 2 had congenital deafness, and 5 had G6PD deficiency. One mother was diagnosed with SMA. No patient was detected by conventional tandem mass spectrometry. Conventional fluorescence immunoassay had revealed 5 cases of G6PD deficiency (all positive by genetic screening) and 2 cases of hypothyroidism (identified as carriers). The most common variants identified in this region have involved DUOX2 (3.93%), ATP7B (2.48%), SLC26A4 (2.38%), GJB2 (2.33%), PAH (2.09%) and SLC22A5 genes (2.09%). CONCLUSION Neonatal genetic screening has a wide range of detection and high detection rate, which can significantly improve the efficacy of newborn screening when combined with conventional screening and facilitate secondary prevention for the affected children, diagnosis of family members and genetic counseling for the carriers.
Child ; Infant, Newborn ; Humans ; Female ; Prospective Studies ; Connexins/genetics* ; Connexin 26/genetics* ; Glucosephosphate Dehydrogenase Deficiency ; Mutation ; Sulfate Transporters/genetics* ; DNA Mutational Analysis ; Genetic Testing/methods* ; Deafness/genetics* ; Neonatal Screening/methods* ; Hearing Loss, Sensorineural/genetics* ; High-Throughput Nucleotide Sequencing ; Solute Carrier Family 22 Member 5/genetics*

OBJECTIVE: To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan. METHODS: A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary. RESULTS: Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.1%. A total of 18 types of G6PD genotypes were identified, including c.1388G>A, c.1376G>T, c.95G>A, c.1024C>T, c.871G>A, c.392G>T, c.487G>A, c.1360C>T, c.1004C>A, c.517T>C, c.592C>T, c.94C>G, c.152C>T, c.320A>G, c.1028A>G, c.1316G>A, c.1327G>C and c.1376G>C, including 683 male hemizygotes, 3 female homozygotes, 80 female heterozygotes and 2 female compound heterozygous. CONCLUSION A total of 18 types of G6PD mutations are identified in the reaserch, and c.94C>G, c.1028A>G and c.1327G>C are first reported in Chinese population. The most common G6PD mutation types in Wuhan are c.1388G>A, c.1376G>T, c.95G>A.
Asians/genetics* ; Female ; Genotype ; Glucosephosphate Dehydrogenase/genetics* ; Glucosephosphate Dehydrogenase Deficiency/genetics* ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Mutation

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency is an enzyme defect affecting around 400 million people worldwide. In the Philippines, cumulative data from the Newborn Screening Reference Center as of December 2020 unveils 248,285 confirmed babies out of 15,087,251 screened babies or prevalence rate of 1:60 with the national return rate of 18% only (NSRC, 2021). One strategy identified pertaining to the recall of patient is the G6PD Recall Monitoring which resulted in a 76% G6PD return rate, compared to the 31% output of the standard recall done in the Province of Ilocos Norte in CY 2020 (NSC-NL, 2022). Hence, this policy brief on G6PD Recall Monitoring serves as a supplementary policy to bridge the gaps in the recall of G6PD Deficient Patients and increase return rate of G6PD nationwide.
Glucosephosphate Dehydrogenase Deficiency ; Glucosephosphate Dehydrogenase

OBJECTIVE: To analyze the screening results of glucose-6-phosphate dehydrogenase (G6PD) deficiency and gene mutation distribution of G6PD deficiency in preterm infants in Chengdu, China, in order to provide a basis for the improvement of G6PD screening process in preterm infants. METHODS: Fluorescent spot test for G6PD deficiency using dried blood spots was used for G6PD screening of 54 025 preterm infants born from January 1, 2015 to December 31, 2019 in Chengdu, and G6PD enzymology and gene detection were used for the diagnosis of 213 infants with positive screening results. RESULTS: Among the 54 025 preterm infants, 192 were diagnosed with G6PD deficiency, with an incidence rate of 3.55‰. The incidence rate of G6PD deficiency in preterm infants was higher than that in full-term infants in the same period of time and tended to increase year by year. Birth in summer, gestational age <32 weeks, and birth weight <2 500 g were influencing factors for the increase in false positive rate of screening ( CONCLUSIONS Screening for G6PD deficiency in preterm infants should be taken seriously. It is recommended to apply cold-chain transportation of samples in summer to reduce the false positive rate of primary screening for G6PD deficiency. Genetic tests should be promoted in girls with positive screening results to improve the detection rate of G6PD deficiency in preterm female infants. There are various types of gene mutations in preterm infants with G6PD deficiency in Chengdu, and infants with c.1024C>T mutation tend to have mild conditions.
China/epidemiology* ; Female ; Genetic Testing ; Glucosephosphate Dehydrogenase/genetics* ; Glucosephosphate Dehydrogenase Deficiency/genetics* ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Mutation

OBJECTIVE: To study the gene mutants of G6PD deficiency and their clinical featuers among children in Luzhou area. METHODS: 732 children with suspected G6PD deficiency in Luzhou area from March 2017 to July 2019 were selected, which were examined for G6PD enzyme activity and gene mutation. The G6PD enzyme activity was detected by ultraviolet rate quantification, and the gene mutation was detected by melting curve analysis-based PCR assay, and the clinical characteristics of different mutants when acute hemolysis happens were analyzed. RESULTS: 387 positive specimens were detected in 732 specimens, among which the gene mutation and the enzyme activity decrease was found in specimens 326, 49 specimens showed gene mutation but without the enzyme activity decrease, and 12 specimens without gene mutation but with the enzyme activity decrease. Among 375 positive samples with gene mutation, c.1376G＞T, c.1388G＞A, c.1024C＞T and c.95A＞G were the most common. The enzyme activity of c.1376G＞T and c.1388G＞A was statistically significantly different with c.1024C＞T. The most common incentives of acute hemolysis was broad bean, the reticulocyte count was statistically significantly different among c.1376G＞T, c.1388G＞A and c.95A＞G. The hemoglobin level of c.1376G＞T was statistically significantly different from with c.95A＞G. Moreover, c.1376G＞T, c.1388G＞A was lower than c.1024 C＞T. When acute hemolysis occurs, the reticulocyte count and hemoglobin changes were different between different mutation types, while the patients age, hospitalization time, blood transfusion, total bilirubin, and urine color recovery time of the patients were not statistically different. CONCLUSION The common mutants of G6PD deficiency among children in Luzhou area are c.1376G＞T, and c.1388G＞A, c.1024C＞T. Favism is the most common clinical manifestation of G6PD deficiency.
Child ; Glucosephosphate Dehydrogenase ; Glucosephosphate Dehydrogenase Deficiency ; Hemolysis ; Humans ; Mutation

OBJECTIVE: To investigate the current status of readmission of neonates with hyperbilirubinemia and risk factors for readmission. METHODS: From January 2017 to December 2019, a total of 85 infants who were readmitted due to hyperbilirubinemia were enrolled as the study group. A total of 170 neonates with hyperbilirubinemia but without readmission during the same period of time were randomly selected as the control group. The medical data were compared between the two groups. Multivariate logistic regression was used to assess the risk factors for readmission due to hyperbilirubinemia. RESULTS: The readmission rate was 2.30%, and the interval between readmission and initial admission was 5 days. Compared with the control group, the study group had significantly higher levels of total bilirubin and indirect bilirubin at discharge (P<0.05) and a significantly longer duration of phototherapy during the first hospitalization (P<0.05). The univariate analysis showed that compared with the control group, the study group had significantly lower birth weight, gestational age, and age on initial admission (P<0.05) and a significantly higher proportion of infants with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency or hemolytic disease (P<0.05). The multivariate analysis showed that low gestational age (OR=1.792, P<0.05), young age on initial admission (OR=1.415, P<0.05), and G-6-PD deficiency (OR=2.829, P<0.05) were independent risk factors for readmission of neonates with hyperbilirubinemia. CONCLUSIONS The infants with hyperbilirubinemia who have lower gestational age, younger age on initial admission, and G-6-PD deficiency have a higher risk of readmission due to hyperbilirubinemia. It is thus important to strengthen the management during hospitalization and after discharge for these infants to prevent the occurrence of readmission.
Bilirubin ; Glucosephosphate Dehydrogenase Deficiency ; Humans ; Hyperbilirubinemia, Neonatal ; Infant, Newborn ; Patient Readmission ; Risk Factors