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Community, culture, and chromosomes: Humanistic approach to childhood G6PD deficiency management.
Patient Educ Couns
February 2025
Department of Paediatrics, Muscat Private Hospital, Muscat, Oman.
: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.
Genes (Basel)
October 2024
Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
Article Synopsis
- - Glucose 6 phosphate dehydrogenase (G6PD) is a crucial enzyme in the pentose phosphate pathway, and its deficiency in red blood cells can lead to acute haemolytic anaemia, especially triggered by oxidative stress from infections or certain foods and medications, such as fava beans.
- - A case study involving a 41-year-old woman from Italy revealed a novel genetic variant (c.1357G>A, p.(Val453Met)) linked to G6PD deficiency, confirmed through advanced DNA sequencing methods.
- - The research emphasizes the significance of Sanger sequencing as a reliable method for confirming genetic variants, particularly for those that may be misidentified using initial testing methods, aligning with WHO guidelines
The Impact of the G6PD Gene Mutations in Patients with Chronic Hepatitis C Infection Treated with Direct-Acting Antivirals: A Multicenter Observational Study.
Genes (Basel)
August 2024
Internal Medicine Unit, Maggiore della Carità Hospital, 28100 Novara, Italy.
Article Synopsis
- Direct-acting antivirals (DAAs) have made hepatitis C treatment much easier, but there’s limited info on how they work for patients with glucose-6-phosphate dehydrogenase deficiency (G6PDd).
- A study looked at 2754 HCV-positive patients from 2015 to 2023, focusing on 38 with confirmed G6PDd, while monitoring their health closely during and after treatment.
- Results showed no significant health issues or adverse events related to the treatment, with effectiveness similar to those without G6PDd, indicating that DAAs are safe for HCV treatment in these patients.
Disturbance of testosterone cycle in favism-induced male rats is prevented by pracaxi oil oral administration.
J Complement Integr Med
December 2024
Department of Pharmacology, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt.
Objectives: Favism is a metabolic disease while pracaxi oil is a strong antioxidant agent. This study evaluates anti-infertility activity and assists normal male fertilization of pracaxi oil in favism-induced male rats.
Methods: A total of 36 male albino rats of six equal sets were each with 6 rats; Control, Pracaxi oil (1 mL), and Pracaxi oil (2 mL), Favism-induced male rats-, Pracaxi oil (1 mL) + Favism-induced male rats, and Pracaxi oil (2 mL) + Favism-induced male rats groups.
Consumption of fava beans in a patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency, also called favism, can lead to a haemolytic crisis. We report the case of a 69-year-old patient of Iranian origin admitted to the emergency department following syncope. The patient's comprehensive interview and blood analysis revealed that the patient presented a haemolytic crisis triggered by fava beans consumption, due to previously undiagnosed G6PD deficiency.
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