Prevalence of and mothers' knowledge, attitude and practice towards glucose-6-phosphate dehydrogenase deficiency among neonates with jaundice: a cross-sectional study.

BACKGROUND: Neonatal jaundice (NNJ) is a frequent complication of glucose-6-phosphate dehydrogenase (G6PD) deficiency. OBJECTIVES: To estimate the prevalence of G6PD deficiency among neonates with jaundice and to assess mothers' perception towards G6PD and NNJ. METHODS: A cross-sectional study was carried out on 487 ethnic Egyptian neonates with indirect hyperbilirubinaemia from June 2018 to July 2019. The collected data included maternal and neonatal characteristics. Laboratory investigations included serum bilirubin, reticulocyte count, ABO grouping, Rh typing and neonatal serum G6PD test. Mothers were interviewed individually using a structured, researcher-administered questionnaire to assess their perceptions of G6PD deficiency and NNJ. RESULTS: The prevalence of G6PD deficiency was 10.10%. Neonates with G6PD deficiency showed higher levels of serum bilirubin (p<0.001). Male gender, family history of G6PD deficiency and consanguinity were risk factors for G6PD deficiency (OR=4.27, 95% CI 1.66 - 10.99; OR=9.54, 95% CI 4.80- 18.95; OR=10.219, 95% CI 5.39 - 19.33, respectively). Mothers' perceptions of NNJ and G6PD were low, with only 30% having good knowledge on NNJ and 17.10% on G6PD deficiency, 46.8% with positive attitude towards NNJ and 45.0% towards G6PD deficiency, and 29.9% with good practice towards NNJ and 19.9% towards G6PD deficiency. CONCLUSION: G6PD deficiency seems to be an important cause of NNJ. Mothers' perceptions of both NNJ and G6PD deficiency were low. A mass health education programme on both of these diseases is needed to ensure better and early detection, good timing of treatment, and better prevention of the triggering factors to ensure better health for children.

Parental discussion of G6PD deficiency and child health: implications for clinical practice.

OBJECTIVE: Parents are encouraged to discuss self-care with children affected by G6PD deficiency; however, little is known about the extent or impact of these discussions on the physical and psychosocial health of these children. The purpose of this study was to examine the nature of parental-child discussions of G6PD deficiency self-care and their relationship to child health. METHODS: A quantitative cross-sectional survey of 178 Taiwanese parents of children with G6PD deficiency was conducted. The extent of parental-child self-care discussions was assessed in regards to coverage of nine key topics. Parent's G6PD deficiency status, knowledge of haemolytic anaemia symptoms and reported G6PD deficiency education from providers were examined as correlates of parental discussion. Child health was assessed with the child health questionnaire-parent form (Chinese version) and a 13-item haemolytic anaemia symptom list. RESULTS: Self-care discussions were positively correlated with parental G6PD deficiency status (ß=2.08, p=0.03), accurate identification of haemolytic anaemia symptoms (ß=0.18, p=0.01), the thoroughness and clarity of patient education (ß=0.14, p<0.001) and child age (ß=1.04, p<0.001). Among children reported to have experienced significant symptoms of acute haemolytic anaemia (35%), the extent of self-care discussions was positively associated with reported physical and psychosocial child health (ß=1.18, p<0.001). CONCLUSIONS: Parental-child G6PD deficiency self-care discussions are associated with better child health, and parental involvement in these discussions is facilitated by the thoroughness and clarity of patient education received from providers.

Identifying risk of neonatal hyperbilirubinaemia and early discharge for glucose-6-phosphate dehydrogenase deficient newborns in Singapore.

INTRODUCTION: This study aims to compare and assess usefulness of day 3 and 4 (49 to 96 hours) pre-phototherapy total serum bilirubin (TSB) in predicting subsequent significant hyperbilirubinaemia (SHB) in glucose-6-phosphate dehydrogenase (G6PD) deficient neonates. MATERIALS AND METHODS: This prospective study was on all the G6PD deficient newborns weighing >2500 g. Day 3 and 4 pre-phototherapy TSB and phototherapy requirements in their first 2 weeks of life were analysed for its value in predicting subsequent SHB. RESULTS: The frequency of G6PD deficiency was 2.4%, 1 per 42 live births (1.3% in males and 1.1% in females). Phototherapy was required in 51% of G6PD deficient infants, all within the first week of life. In the absence of SHB in the first week, the probability of its development in the second week was zero (95% confidence interval, 0 to 0.051). The day 4 pre-phototherapy TSB of <160 micromol/L predicted no measurable risk of subsequent SHB (sensitivity, 94%; 95% confidence interval, 83.5% to 97.9%; specificity 82.8%; 95% confidence interval, 71.1% to 90.4%). CONCLUSIONS: G6PD deficient newborns without SHB in their first week of life were at no measurable risk of its development in the second week. Day 4 pre-phototherapy has better sensitivity and specificity compared to day 3 pre-phototherapy TSB in predicting the risk of subsequent SHB. Low-risk infants, thus identified, may be eligible for discharge on or before day 7 of life. Infants with Day 4 TSB <160 can be even discharge on day 4 with follow-up appointment. Evidence-based early discharge can decrease the social, emotional and financial burden of G6PD deficiency in Singapore.

Adequacy and pitfalls of G6PD deficiency counseling in Hong Kong.

Glucose-6-Phosphate-Dehydrogenase (G6PD) deficiency is common in Hong Kong with an incidence of 4.5% in male and 0.36% in female (Lo et al. 1996).The Neonatal Screening Unit of Clinical Genetic Service started its territory-wide neonatal screening program for G6PD deficiency and congenital hypothyroidism in 1984 (Lam et al, 1986). Because of insufficient manpower and resource, we have been giving health counseling on the phone to parents of G6PD deficient babies and then refer them to nearby maternal and child health centres for monitoring of jaundice. The disease, mode of inheritance, recurrence risk and the precaution against certain medicines (Chan 1996) and chemicals are explained. The purpose (Lam, 1994) is to reassure the parents that their G6PD deficient babies can be as normal as everyone and that they can have normal life. Nevertheless, it has not been established whether telephone counseling has any effect on the affected family in the form of psychological trauma (Marteau, 1989; Fyro, 1987; Li et al, 1996) or significant influence on the decision on future reproduction. This study tried to evaluate the service from the parents' point of view by 1) gathering information on parents' awareness and perception of G6PD deficiency, 2) determination of parents' attitude towards the telephone counseling, and 3) finding out the effect of G6PD deficiency on parents' decision on future reproduction. Over 300 parents were contacted by telephone, and were asked to respond to questions on a questionnaire . The telephone interview focused on parents' understanding of G6PD deficiency, their attitude towards this disease and the possible effect on future reproduction decision. Results showed that over 90% of cases that we had counseled attended the maternal and child health centres. Most of them accepted the presence of G6PD deficiency in their family which did not affect their decision on future pregnancy. Telephone counseling failed to establish a helping relationship with the parent as face to face counseling was more personal. The findings revealed that though telephone counseling had its shortcoming it served the target group effectively. Telephone counseling is still the method of choice for the G6PD deficiency counseling in this locality.