A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.
PMID 41458859 | PMCID PMC12741676 | DOI 10.7759/cureus.97824 · Cureus · 2025 · View on PubMed ↗
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | G6PD | “Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, predisposing individuals to acute hemolytic anemia upon oxidative stress.” | 0.98 | hgnc_dict_v1 |
| phenotype | glucose-6-phosphate dehydrogenase deficiency | “A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia. 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.” | 0.95 | saudi_context_rules_v1 |