The importance of the glucose-6-phosphate dehydrogenase deficiency screening in the context of mixed races population in Romania

ABSTRACT

Introduction. The glucose-6-phosphate-dehydrogenase (G6PD) deficiency is probably one of the most frequent genetic alterations and represents a public health issue, affecting more than 400 million people worldwide. Due to migration, G6PD deficiency cannot any longer be determined in a specific geographical location, but it can occur anywhere, including Romania.

Case presentation. We present the case of a newborn hospitalized for prolonged neonatal jaundice because of a combination of risk factors (preterm birth, breastfeeding and G6PD deficiency) and medication – paracetamol and hepatoprotective syrup from Ayurvedic traditional medicine, that triggered the hemolytic crisis. After the diagnosis was established, the intake of drugs received at home was stopped and the hemoglobin and hemoglobinuria values were monitored; the iso-group iso-Rh erythrocyte mass was administered and the posttransfusion hemoglobin was determined. At discharge, the family was trained to know the factors that delineate the hemolytic crisis, as well as the recognition of the occurrence of a hemolytic crisis, in order to address the emergency specialized service. Berberine, the hemolysis trigger factor, is found in green pharmacy preparations and as such in the present context – of mixed races population and of the globalization – we can expect an increase in hemolysis incidence associated with G6PD deficiency.

Conclusions. The identification of high-risk populations – through well conducted family medical history and screening – reduces the possibility of irreversible neurological damage. Educating the parents and the medical staff involved in the care of these newborns plays an extremely important role, avoiding the exposure to the chemical, medication and alimentary triggers being a very efficient way of preventing the hemolytic crisis.

Keywords: G6PD-deficiency screening, Berberine, Tinospora Cordifolia.

Address for correspondence:
Andrei KOZMA
“Alessandrescu-Rusescu” National Institute for Mother and Child Health, Bucharest, Romania; Academy of Romanian Scientists
Email: dr.ka.mailbox@gmail.com