G6PD deficiency: When red blood cells need extra care

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that affects the red blood cells, leading to their destruction when exposed to certain triggers. This condition primarily affects males, although females can also be carriers.

It arises from a lack of an essential enzyme called glucose-6-phosphate dehydrogenase (G6PD). This enzyme plays a vital role in protecting red blood cells from damage by maintaining their structure.

G6PD deficiency affects between 400 and 500 million people across the world. G6PD deficiency is most common in people of African, Asian, and Mediterranean descent

What happens in G6PD deficiency?

When the body doesn't have enough G6PD, red blood cells become vulnerable to breakdown, a process called hemolysis. This breakdown leads to hemolytic anemia, a condition where the body doesn't have enough healthy red blood cells to carry oxygen effectively.

Causes and Genetics:

G6PD deficiency is caused by mutations in the G6PD gene, which provides instructions for producing the G6PD enzyme. This enzyme plays a crucial role in protecting red blood cells from oxidative damage. When the G6PD enzyme is deficient or dysfunctional, red blood cells become vulnerable to oxidative stress, leading to their destruction.

The inheritance pattern of G6PD deficiency is X-linked recessive, which means the gene responsible for the condition is located on the X chromosome. Males have only one X chromosome, so if they inherit a faulty G6PD gene, they will develop the condition. Females, who have two X chromosomes, are more commonly carriers of the gene mutation. However, in some cases, a phenomenon called X-inactivation can lead to symptoms in females who carry only one altered gene.

Symptoms and Triggers:

The severity of symptoms in individuals with G6PD deficiency can vary widely, ranging from mild to life-threatening. Symptoms often occur when red blood cells are exposed to certain triggers, including:

1. Certain Foods and Beverages: Fava beans (also known as broad beans) are a well-known trigger for G6PD deficiency reactions. Other substances like certain legumes, blueberries, and food colorings may also provoke symptoms.

2. Infections: Illnesses such as bacterial or viral infections can trigger hemolysis in individuals with G6PD deficiency.

3. Medications: Certain medications, including antibiotics, antimalarials, and pain relievers like aspirin and ibuprofen, can induce hemolysis in individuals with G6PD deficiency.

Symptoms to watch for: Fatigue and weakness, Pale skin, Shortness of breath, Rapid heartbeat, Dark urine, Jaundice (yellowing of the skin and whites of the eyes)

Diagnosis, Management, and living with G6PD deficiency:

Diagnosing G6PD deficiency typically involves blood tests to measure G6PD enzyme activity. Since individuals with G6PD deficiency may not experience symptoms until triggered, it's essential to identify the condition through screening, especially in populations where the disorder is more prevalent.

There is no cure for G6PD deficiency, but effective management strategies exist. The primary focus is on avoiding triggers that can lead to hemolytic crises. This may involve:

1. Maintaining a list of medications to avoid and informing healthcare providers about G6PD deficiency.

2. Avoiding fava beans and other potential triggers if identified.

3. Addressing infections promptly.

In some severe cases, blood transfusions might be necessary.

Living a healthy life with G6PD deficiency

With proper awareness and management, individuals with G6PD deficiency can lead healthy and fulfilling lives. Early diagnosis and adherence to preventive measures are key. If you have concerns about G6PD deficiency, consulting a healthcare professional for testing and guidance is recommended.

References:

Mayo Clinic (https://www.mayocliniclabs.com/test-catalog/Overview/607460)
Glucose-6-phosphate dehydrogenase deficiency | Blood | American Society of Hematology https://ashpublications.org/blood/article/136/11/1225/461549/Glucose-6-phosphate-dehydrogenase-deficiency