Zenodo
A Case-by-Case Evaluation of Patients Presenting to the Emergency Department at Hatay Mustafa Kemal University and Clinically Diagnosed with Favism or Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: A Retrospective Case Series of Twelve Cases
By Hakan Reyhan and Ali Karakus.
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common inherited erythrocyte enzyme disorders worldwide and is frequently observed in the Mediterranean basin, particularly in Turkey’s Çukurova and Mediterranean regions. Acute hemolytic attacks triggered by fava bean consumption (favism) are a significant clinical presentation in patients presenting to the emergency department with a history of fava bean consumption, accompanied by jaundice, fatigue, and dark-colored urine. The aim of this study is to present a detailed, case-by-case analysis of each patient who presented to the emergency department of a single tertiary care center and was clinically diagnosed with favism or G6PD deficiency. Twelve cases who presented to the emergency department of Hatay Mustafa Kemal University Health Application and Research Hospital between [01.01.2021] and [01.01.2026] and were evaluated with a preliminary diagnosis of clinical favism/G6PD deficiency were retrospectively reviewed. Patients with laboratory evidence of acute hemolysis and a documented history of fava bean exposure and/or an admission diagnosis of favism/G6PD deficiency were included; cases in which hemolysis was attributed to medication or infection in the absence of fava bean exposure were excluded. Of the 12 cases, 10 were male and 2 were female; the age range was approximately 4–30 years, with the majority of cases falling within the pediatric age group. Anemia of varying severity, accompanied by indirect hyperbilirubinemia, was detected in all cases; hemoglobin levels at presentation and at their lowest were between 4 and 7.9 g/dL. Lactate dehydrogenase (LDH) levels were elevated in all cases where they could be measured (395–1306 U/L). The most common presenting complaints were jaundice, fatigue, abdominal pain, and dark-colored urine. Some patients required red blood cell suspension transfusions. Hemoglobinuric acute kidney injury was observed in one adult female patient, anemia with accompanying microcytosis in one adolescent patient, and a post-discharge relapse in another patient. In our region (Hatay), located in the Mediterranean basin, favism is a common and significant cause of acute hemolytic anemia presenting to the emergency department. It should be noted that this condition is not limited to male children; female children and adults may also be affected. In addition to the early recognition of hemolytic findings, inquiring about a history of fava bean consumption as a triggering factor is valuable for clarifying the diagnosis. When indicated, red blood cell suspension transfusion is critical for reducing mortality and morbidity in emergency medical practice.



