Perfil dos Neonatos Triados Pelo Teste do Pezinho com Deficiência de G6pd no Nordeste Brasileiro

Abstract

Deficiency of G6PD (dG6PD) leads to erythrocytes lysis due to the inoperative activity of Glucose-6-Phosphate Dehydrogenase (G6PD), an important enzyme in the physical-structural protection caused by oxidative stress, which affects 400 million people worldwide and unusual data in Brazil. Having an Afro-Asian origin, it manifests from asymptomatic to deaths due to neurological damage resulting from hemolytic anemia. The Guthrie Test offered by the Brazilian Health Ministry (BHM) does not include the pathology, available only in private service. This work aims to characterize the social, family, gestational, clinical, and laboratory profile of newborns and to verify the access to genetic counseling (GA) of the parents in the 2nd quarter of 2020. A descriptive and quantitative study was designed, based on an interview with a standardized questionnaire with an approach of questions regarding the scope of the investigative proposal. Altogether, 9 neonates with suggestive changes to dG6PD from the private service offered by the Association of Parents and Friends of the Exceptional in Parnaíba, Piauí, Brazil, participated. For the selection of individuals, it was necessary to sign the Free and Informed Consent Form by the legal guardians. This research was accepted by the Ethics Committee of the Federal University of Piauí CAAE number 27246419.2.0000.5214. The collection took place on filter paper, following the recommendations of the Ministry of Health, and sent to the DNA Laboratory, Salvador - BA. Subsequently, the pathology was elucidated to the parents and the result of the exam was analyzed. Of the 46 patients, 30 were male (M) and 16 female (F). Eleven neonates (9M / 2F) were recalled by the dG6PD alteration. Of the 9 participants, 77.78% (7) were of the M gender; The declared predominant color was brown, 55.56% (5), followed by 44.44% (4) of the white color. Birth weight was ideal for 100% of patients, with an average of 3,344g ± 0.253 and 88.89% (8) were born in a private maternity hospital. Concerning couples and a mother present, 44.44% (4) mentioned intellectual disability as a pre-existing genetic disorder in the family. Mild jaundice was mentioned 33.33% (3), an amount identical to the administration of drugs for colic and vitamin D. Breastfeeding was mentioned 88.89% (8) when fasting for less than 1h 44.44% (4). Risk pregnancies and previous abortions were reported by 11.11% (1). 88.89% (8) and 77.78% (7) performed cesarean delivery and medication during pregnancy, in that order. In the laboratory, 100% performed outside the ideal period, an average of 14±6 and 39±6 days, respectively, in both collections and only 22.22% (2) performed all neonatal screening recommended by the BHM. All those responsible denied consanguinity and access to the GA. The new tests revealed that 44.44% (4), with a

majority 3M of brown color, have dG6PD. GT is important for tracking serious pathologies, however, it is imperative to elucidate the parents about the disorders, the neonatal screening protocol established by the BHM, the possibility of false-positive, understanding the concept of intellectual disability, and the importance of GA.