SNP Shot: Genomic Insights

Glucose phosphate isomerase (GPI) deficiency is a genetic condition that impacts red blood cells, which are responsible for transporting oxygen throughout the body. This deficiency leads to chronic hemolytic anemia, a condition where red blood cells are prematurely destroyed (hemolysis), causing a shortage of these cells (anemia). Symptoms of chronic hemolytic anemia may include pale skin (pallor), yellowing of the skin and eyes (jaundice), extreme fatigue, shortness of breath (dyspnea), and a rapid heartbeat (tachycardia). Other potential complications include an enlarged spleen (splenomegaly), excessive iron levels in the blood, and gallstones.

The severity of hemolytic anemia in GPI deficiency varies considerably. In the most severe instances, affected individuals do not survive gestation. Those with milder forms of the disease can live into adulthood. Regardless of the overall severity, individuals with GPI deficiency can experience periods of increased red blood cell destruction, known as hemolytic crises, often triggered by infections.

In a small number of cases, individuals with GPI deficiency also experience neurological issues such as intellectual disability and impaired coordination (ataxia).

Inheritance:

GPI deficiency follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the GPI gene from both parents to develop the condition. The parents, who each carry only one copy of the mutated gene, are typically asymptomatic.