Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain

TL;DR

A five-year-old girl in Bahrain was diagnosed with rare GPI deficiency, a genetic disorder causing hemolytic anemia, through genetic testing and clinical evaluation.

Contribution

This case highlights the importance of genetic testing in diagnosing rare enzymatic disorders in children with hemolytic anemia.

Findings

A homozygous likely pathogenic variant in the GPI gene was identified through whole-exome sequencing.

The patient was managed with blood transfusions, folic acid, vitamin D, and iron chelation therapy.

The case emphasizes the need to consider rare enzymatic disorders in pediatric hemolytic anemia.

Abstract

Glucose-6-phosphate isomerase (GPI) deficiency is a rare autosomal recessive enzymopathy that presents with chronic nonspherocytic hemolytic anemia. We report the case of a five-year-old Bahraini girl with a history of neonatal jaundice and recurrent episodes of anemia. A comprehensive diagnostic workup, including peripheral smear, bone marrow examination, and whole-exome sequencing, revealed a homozygous likely pathogenic variant in the GPI gene, confirming the diagnosis of GPI deficiency. The patient was managed with supportive measures including blood transfusions, folic acid, vitamin D supplementation, and iron chelation therapy. This case underscores the importance of considering rare inherited enzymatic disorders in the differential diagnosis of pediatric hemolytic anemia and highlights the critical role of genetic testing in achieving diagnostic clarity and informing long-term care.

Figures