Clinical Manifestations and Therapeutic Findings of the Children with Glucose-6-Phosphate Dehydrogenase Deficiency Presenting Favism

Abstract

Aim: Favism is characterized as acute anemia, due to Glucose-6-phosphate dehydrogenase (G6PD) deficiency as a result of fava beans intake. It is associated with paleness, jaundice, and hemoglobinuria. In this study, signs, symptoms and therapeutic findings of the patients with hemolysis due to G6PD deficiency were investigated in Shahid Madani Hospital of Khorramabad, Lorestan. Methods: This is a single-center cross-sectional descriptive study that was conducted on all children with G6PD deficiencyinduced hemolysis. Results: 308 children (64.3% male and 35.7% female) were included in this study. The most common complaint was jaundice (82.5%) and the most common cause of hemolysis was the intake of fava bean (85.7%). 68% of the children were treated with hydration/fluid therapy. Blood transfusion was conducted in 36.36% of the cases and the mean of blood administered was 18.9 cc/kg. Conclusion: In this study, hydration therapy was performed in most of the children presenting favism. Also, the incorrect calculation of the amount of blood needed for transfusion has increased the frequency of blood transfusions and prolonged hospitalization time.

Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women

“…G6PDd is caused by a deficiency in the enzyme glucose‐6‐phosphate dehydrogenase encoded by the G6PD (OMIM: 305900) gene on chromosome Xq28 (Cappellini & Fiorelli, 2008 ). Clinically, patients with G6PDd present with either the early onset of neonatal hyperbilirubinemia or the late onset of fulminant episodes of hemolysis by specific oxidative agents (such as primaquine and chloroquine, which are prescribed in malarial prophylaxis) or by the intake of fava beans (Cappellini & Fiorelli, 2008 ; Ong et al, 2017 ; Tarhani et al, 2021 ). There is no treatment; thus, the most effective therapy is knowing the disease's presence and preventing exogenously oxidative agents.…”

“…However, these data are limited by geographic variations and ethnic‐specific differences (Hillert et al, 2020 ; Howes et al, 2012 ; Senemar et al, 2011 ). Despite previously reported studies, there is still a lack of large‐scale prenatal genetic screening studies about these three common metabolic diseases amongst Vietnamese and other Asian populations (Lee et al, 2011 ; Matsuo et al, 2003 ; Senemar et al, 2011 ; Tarhani et al, 2021 ; Tran et al, 2021 ). In parallel with the benefits of a newborn genetic screening programme, a prenatal screening programme for pregnant women will bring more benefits in providing carriers with their genetic data.…”