ArticleCureus2025
A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors.
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Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, predisposing individuals to acute hemolytic anemia upon oxidative stress. Hereditary elliptocytosis (HE) is a distinct, typically autosomal dominant disorder caused by red blood cell (RBC) membrane skeleton defects, leading to chronic hemolysis. The co-occurrence of G6PD deficiency and HE is exceedingly rare, often resulting in more severe and complicated clinical presentations. Here we report the first case of a five-year-old Saudi male from a consanguineous marriage who presented in the neonatal period with G6PD deficiency and recurrent hemolytic crises, including a severe episode following circumcision. At age five, he exhibited persistent severe anemia (hemoglobin 5.8 g/dl), chronic hemolysis (reticulocyte count 14.4), and significant hepatosplenomegaly. Next-generation sequencing (NGS) provided a rapid and conclusive molecular diagnosis by identifying the genetic mutations for both disorders.
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