# First Reported Case of Glucose-6-Phosphate Isomerase Deficiency in a Saudi Child With Hemolytic Anemia

## TL;DR

This paper reports the first case of a rare enzyme deficiency causing anemia in a Saudi child, confirmed through genetic testing.

## Contribution

The study presents the first documented case of GPI deficiency in Saudi Arabia, confirmed via whole-exome sequencing.

## Key findings

- A Saudi child was diagnosed with GPI deficiency through whole-exome sequencing.
- The diagnosis revealed a homozygous pathogenic variant in the GPI gene.
- This case expands the understanding of GPI deficiency in a new geographic and ethnic population.

## Abstract

Glucose-6-Phosphate Isomerase (GPI) deficiency constitutes a rare autosomal recessive enzymopathy that causes hereditary nonspherocytic hemolytic anemia (HNSHA). The condition is linked to homozygous or compound heterozygous mutations in the GPI gene located on chromosome 19q13. This enzyme deficiency disrupts glycolysis, leading to hemolysis of red blood cells. This report documents the first Saudi patient officially diagnosed with GPI deficiency. The diagnosis was conclusively established using whole-exome sequencing (WES), which identified a homozygous pathogenic variant in the GPI gene.