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

139 subjects of 2 ethnic groups of Kinh (Hanoi) and Muong (HoaBinh) were submitted to study from October to December 2003 in order to assess the sensitivity and the specificity of the rapid test of determination of G6PD. All subjects underwent both two methods (rapid test and quantifying method) in concomittance.Results showed the sensity of 91,2% and the specificity of 97,2% in both male and female genders. For detecting G6PD defiency in male, the rapid test gave higher sensitivity and specificity than in female 97,1 and 100% respectively in male and 85,3% and 94,1% in female subjects
Glucosephosphate Dehydrogenase ; deficiency ; diagnosis ;

To determine the prevalence of G6PD deficiency, the cross sectional surveys were carried out in 5922 subjects (4,043 males and 1,879 females) from 14 different ethnic groups of population in 11 provinces of Vietnam from 1996 to September 2004. Two methods with qualitative virual fluorescent test and rapid test were used. The samples from 559 individuals were independently and comparatively analyzed by two methods for calculating the Kappa index. The Kappa index of 0.081 reflected a high compatibeness of two methods. The prevalence of G6PD deficiency varied from area to area, and D6PD of males was much different from group to group population. There was no relationship between G6PD and malaria
Glucosephosphate Dehydrogenase ; epidemiology ; deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide including Malaysia. Screening of cord blood for partial G6PD deficiency is important as they are also prone to develop acute haemolysis. In this study, we determined the prevalence of partial G6PD deficient in paediatric population aged 1 month-12 years and normal term female neonates using OSMMR-D kit with haemoglobin (Hb) normalization and compare it with florescence spot test (FST). A total of 236 children, aged between between 1 month-12 years and 614 normal term female neonates were recruited for this study. Determination of normal means for G6PD activity and; cut-off points for partial and severe deficiency were determined according to WHO Working Group (1989). Determination of prevalence for partial deficiency for both groups (female patient) was done using this enzyme assay kit and findings were compared with FST. In this study, 15.7% (18/115) female children were classified as partial G6PD deficient by quantitative enzyme method (G6PD activity: 4.23-5.26U/gHb). However, FST only detected 0.9% (1/115) with minimal G6PD activity. The prevalence of partial G6PD deficiency in female neonate group was 3.42% (21/614) by enzyme assay versus 0.49% (3/614) by FST. This study concluded that our routine screening method using FST was unable to diagnose female heterozygotes. We recommend using this quantitative enzyme assay method by OSMMR-D kit since it was more sensitive in detecting G6PD deficiency in female neonates compared to FST.
Glucosephosphate Dehydrogenase Deficiency

Erythema elevatum diutinum (EED) is a rare condition believed to be a form of chronic recurrent leukocytoclastic vasculitis possibly secondary to vascular immune complex deposition. The disease is characterized by symmetrical, red, brownish-purple, and yellow papules, plaques, and nodules distributed mainly over the extensor surfaces of the extremities. We report a 61-year-old male with an atypical presentation of such disease as a giant warty lesion on the heels. Histologically, a spectrum from leukocytoclastic vasculitis to vessel occlusion and dermal fibrosis is seen in EED. These histological findings were present in the histopathological reading of the patient which established its diagnosis and further ruled out verruca vulgaris. The disease is associated with many disease entities, which include human immunodeficiency virus, malignant conditions, chronic infection, and autoimmune and connective tissue disorders. None of these conditions was present in the patient as manifested in the history, physical, and laboratory examinations. However, the patient has a low hemoglobin and a G6PD deficiency which makes him a bad candidate for dapsone therapy which is the main treatment for EED. Tetracycline, niacinamide and plain vaseline + salicylic acid were given initially for 4 weeks but no improvement was noticed. It was then shifted to 10mg intralesional corticosteroid and urea paste 40%. Niacinamide still was given. There was a marked thinning of the lesions. The medications were continued and were slowly tapered. More improvement of the lesions was observed.
Glucosephosphate Dehydrogenase Deficiency ; Niacinamide

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

Introduction: Midwives play an important role in promoting newborn screening (NBS) and they ensure that all Filipino newborns are offered screening for life-threatening metabolic conditions. Of the disorders included in NBS, Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency is the most common disorder detected. Objectives: This study aimed to assess the knowledge, self-perceived role, and experience of midwives who practice in urban and rural settings in educating parents of a newborn who are confirmed cases for G6PD deficiency. Method: One-on-one semi structured interview was conducted among 21 midwives from Manila City and Lipa, Batangas, Philippines. Results: The study findings indicate that midwives frequently serve as the primary information resource for parents of infants with G6PD deficiency. Assessment of knowledge showed that midwives have sufficient knowledge about the medical management and the necessary follow-up of infants with G6PD deficiency. However, it also revealed that they have inadequate knowledge of the underlying genetic cause of G6PD deficiency. The surveyed midwives recognized their role and the importance of proper education regarding G6PD deficiency. Conclusion The findings of this study identified gaps in the midwives’ knowledge on the genetic mechanisms and inheritance of G6PD deficiency, which could be a basis to improve the education and dissemination of information and to eventually improve parental education and care of newborns with G6PD deficiency
Genetic Counseling ; Glucosephosphate Dehydrogenase Deficiency ; Neonatal Screening

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

China ; Genetic Testing ; Glucosephosphate Dehydrogenase ; genetics ; Glucosephosphate Dehydrogenase Deficiency ; genetics ; prevention & control ; Humans ; Mutation

BACKGROUND: Newborn Screening (NBS) is a public health activity aimed at the early identification of infants who are affected by certain genetic/metabolic/infectious conditions. A cost analysis is critical for national implementation for integration as a public health program.

OBJECTIVES: 1) To determine the incidence rates of congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), galactosemia (GAL), phenylketonuria (PKU) and glucose-6-phosphate dehydrogenase (G6PD) deficiency; and 2) To determine whether NBS is cost-beneficial for each disorder individually or in combination, from a societal perspective.

STUDY DESIGN: Cross sectional survey and cost-benefit analysis.

SUBJECTS AND METHODS: The study was conducted through a screening survey of the original 24 Metro Manila hospitals. Newborns were screened for CH, CAH, GAL, PKU and G6PD deficiency after the 24th hour of life. Those who screened positive underwent serum confirmatory testing. Using incidence rates from the screening survey, a population of 1.5 million, and different screening combinations, the costs for the detection and treatment of the five disorders were compared to the benefits projected from preventing the corresponding complications and consequent productivity losses. For economic evaluation, we compared sequential analysis of doing tandem/multiple testing for the different disorders vs a "do-nothing" alternative. Sensitivity analyses for different incidence and discount rates were conducted to test the strength of the conclusions.

RESULTS: The incidences of the disorders with 95% confidence intervals are: CH is 1:3 235 (1:2 219 - 1:5 946); CAH is 1:7 455 (1:4 046 - 1: 14245); GAL is 1: 106 006 (1: 44 218-1:266 796); and G6PD deficiency is 1:167 (1:151 - 1: 186). Screened individually, CH and G6PD deficiency had net benefits of US$ 5.29 M and US$ 15.44 M, respectively. The other conditions yielded net costs when screened individually - CAH (US$ 2.61 M), GAL (US$ 0.90 M) and PKU (US$ 6.74 M). Pairing the disorders with CH showed the following benefit:cost ratios - CH + CAH, 1.3; CH + GAL, 2.0; CH + G6PD deficiency, 3.4; and CH + PKU, 0.9. Combining disorders resulted in the following benefit:cost ratios - CH + CAH + GAL, 1.2; CH + CAH + GAL + PKU, 0.8; and CH + CAH + GAL + G6PD deficiency, 2.1. Screening for the 5 disorders in tandem resulted in a benefit:cost ratio of 1.4 and a net benefit of US$ 11.42 M.