Unlocking the Mysteries of Glucose-6-Phosphate Dehydrogenase Deficiency

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that affects millions of people worldwide. It has been associated with an increased risk of oxidative stress, diabetes, and related complications like nephropathy1. Despite its prevalence, many people, including healthcare professionals, have limited knowledge about this condition24. This article aims to provide a comprehensive understanding of G6PD deficiency, its diagnosis, and the role of genetic testing in managing this disorder.

Understanding Glucose-6-Phosphate Dehydrogenase Deficiency

G6PD deficiency is an inherited condition caused by mutations in the G6PD gene. This gene provides instructions for producing an enzyme called glucose-6-phosphate dehydrogenase, which plays a crucial role in protecting red blood cells from damage caused by reactive oxygen species. When the G6PD enzyme is deficient, red blood cells become more susceptible to damage, leading to a range of health issues, including anemia, jaundice, and, in some cases, kidney damage.

Some studies have also found a link between G6PD deficiency and hormonal imbalances, such as decreased levels of testosterone, DHEA, vitamins D3 and K, and zinc, while copper levels increase3. These imbalances may contribute to the increased risk of diabetes and renal impairment observed in individuals with G6PD deficiency1.

Diagnosing Glucose-6-Phosphate Dehydrogenase Deficiency

Diagnosing G6PD deficiency typically involves a combination of clinical evaluation, blood tests, and genetic testing. Blood tests can detect reduced G6PD enzyme activity and signs of hemolysis (destruction of red blood cells). However, genetic testing is necessary to confirm the diagnosis and identify the specific G6PD gene mutation responsible for the deficiency.

The Role of Genetic Testing in G6PD Deficiency

Genetic testing plays a critical role in diagnosing and managing G6PD deficiency. Some of the key benefits of genetic testing for this disorder include:

• Confirming the diagnosis: Genetic testing can help confirm the diagnosis of G6PD deficiency by identifying the specific gene mutation responsible for the reduced enzyme activity.
• Identifying carriers: Genetic testing can also be used to identify carriers of G6PD deficiency, who may not show any symptoms but can pass the condition on to their children. This information is particularly valuable for couples planning to have children, as it allows them to make informed decisions about family planning and prenatal testing.
• Guiding treatment and management: Knowing the specific G6PD gene mutation can help healthcare providers tailor treatment and management strategies for individuals with G6PD deficiency. For example, certain medications can trigger hemolysis in people with G6PD deficiency, so identifying the specific mutation can help healthcare providers avoid prescribing these drugs.
• Improving awareness and education: Genetic testing can help raise awareness about G6PD deficiency among individuals, families, and healthcare providers, leading to better understanding and management of this condition24.

In conclusion, glucose-6-phosphate dehydrogenase deficiency is a complex genetic disorder with significant health implications. Understanding the condition, its diagnosis, and the role of genetic testing is crucial for managing G6PD deficiency and improving the quality of life for affected individuals and their families. By raising awareness and promoting education about this condition, we can work together to ensure that those living with G6PD deficiency receive the care and support they need.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)