The Comparison of First Diagnosed and Previous Diagnosed Patients of G6PD Deficiency

Abstract

Background: Symptomsin glucose-6-phosphate dehydrogenase (G6PD) deficiency patients could be from asymptomatic to severe hemolysisfrom precipitating factorssuch asinfection orsome foods and drugs. Prevention by avoiding these specific foods and drugs could reduce the severity of symptoms. Newborn screening for G6PD to early diagnosis before symptomatic is available in some countries, but not inThailand.Thisstudy aimsto determine the advantage of knowing the diagnosis of G6PD deficiency before symptomatic.
Objectives: To determine the incidence of G6PD deficiency patients by newborn screening. To study the comparison of the severity and hospitalization cost of the disease between known and unknown diagnoses of G6PD in G6PD patients before symptomatic.
Methods: Incidence of G6PD deficiency, the data were retrospectively collected from the newborn screening results database of newborns born at Rajavithi Hospital from May 2017 to April 2021. Comparison study, the data (basic information, severity of disease and treatments) were retrospectively collected frommedicalrecords of G6PD patients hospitalizedat Queen Sirikit national institute of child health from May 2015 to April 2021.
Results: Incidence of G6PD deficiency, data from 19,490 newborns during four years were collected, and 1,194 newborns were diagnosed with G6PD deficiency. The incidence of G6PD was 10% and 2% among the male and female populations, respectively. Comparison study: in the newborn (age < 1 month) period, all 39 patients presented with jaundice and had no definite trigger factor. The disease severity and hospitalization cost were not statistically different between the known (n=31) and unknown (n=8) diagnosis groups. In 43 children aged more than one month, G6PD patients with known diagnosis (n=16) had tatistical difference (higher hemoglobin, less blood transfusion, lower hospitalization cost) compared to the known diagnosis group (n=27).
Conclusion: G6PD patients older than one month without a known diagnosis had more severe symptoms than G6PD patients with known diagnoses. Knowing the diagnosis led to the prevention of avoiding precipitating factors, and early awareness of the disease can reduce the severity of anemia and reduce the burden of treatment costs in children older than one month