G6PD deficiency is a genetic condition that affects the red blood cells. It is caused by a mutation in the G6PD gene, which is responsible for producing an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is essential for protecting the red blood cells from damage caused by oxidative stress. G6PD deficiency is one of the most common genetic disorders in the world, affecting millions of people, especially those from Africa, Asia, and the Mediterranean.
Symptoms of G6PD Deficiency
The symptoms of G6PD deficiency can vary from person to person. Some people may never experience any symptoms, while others may have severe symptoms. Common symptoms of G6PD deficiency include:
- Jaundice (yellowing of the skin and eyes)
- Dark urine
- Shortness of breath
- Rapid heart rate
- Enlarged spleen
These symptoms usually occur after exposure to certain triggers, such as infections, certain medications, or consuming certain foods. For example, people with G6PD deficiency are at risk of developing acute hemolytic anemia after exposure to certain medications, such as antimalarials, sulfonamides, and nitrofurans.
Causes of G6PD Deficiency
Causes of G6PD Deficiency
G6PD deficiency is caused by a mutation in the G6PD gene, which is located on the X chromosome. This means that the condition affects males more often than females, as males only have one X chromosome, while females have two. Females can be carriers of the G6PD deficiency gene without showing any symptoms. However, if a female carrier has a son, there is a 50% chance that he will inherit the mutated gene and develop G6PD deficiency.
Certain triggers can cause oxidative stress and lead to the destruction of red blood cells in people with G6PD deficiency. These triggers include:
- Infections (such as malaria)
- Certain medications (such as antibiotics and antimalarials)
- Fava beans and other legumes
- Vitamin K supplements
Managing G6PD Deficiency
There is currently no cure for G6PD deficiency. However, there are steps that people with the condition can take to manage their symptoms and reduce their risk of complications.
The most important step in managing G6PD deficiency is to avoid triggers that can cause oxidative stress. People with the condition should avoid:
- Infections: It’s important to take steps to prevent infections, such as practicing good hygiene and avoiding contact with people who are sick.
- Certain medications: People with G6PD deficiency should avoid certain medications that can cause oxidative stress. It’s important to talk to your doctor before taking any medications, including over-the-counter medications and herbal supplements.
- Certain foods: People with G6PD deficiency should avoid foods that can cause oxidative stress, such as fava beans and other legumes.
If you experience symptoms of G6PD deficiency, such as jaundice or fatigue, your doctor may recommend certain treatments to manage your symptoms. These treatments may include:
- Blood transfusions: In severe cases, blood transfusions may be necessary to replace the damaged red blood cells.
- Medications: Your doctor may prescribe medications to help manage your symptoms, such as pain relievers or anti-itch creams.
- Rest: Rest is important for people with G6PD deficiency, especially during periods of illness or stress.
People with G6PD deficiency are at risk of developing complications, such as chronic hemolytic anemia, which can lead to fatigue, shortness of breath, and an enlarged spleen. To prevent complications, people with G6PD deficiency should:
- Get regular check-ups: It’s important to see your doctor regularly to monitor your condition and identify any potential complications.
- Stay hydrated: Drinking plenty of fluids can help prevent dehydration, which can worsen symptoms of G6PD deficiency.
- Get vaccinated: People with G6PD deficiency are at higher risk of developing infections, so it’s important to get vaccinated against diseases like flu and pneumonia.
G6PD deficiency is a genetic condition that affects millions of people worldwide. It is caused by a mutation in the G6PD gene, which leads to a deficiency of the enzyme glucose-6-phosphate dehydrogenase. This deficiency can cause oxidative stress and lead to the destruction of red blood cells, which can cause symptoms like jaundice, fatigue, and shortness of breath. There is currently no cure for G6PD deficiency, but people with the condition can manage their symptoms and reduce their risk of complications by avoiding triggers, managing their symptoms, and preventing complications. It’s important to talk to your doctor if you have any concerns about G6PD deficiency or if you experience any symptoms.
About The Author
Dr. Krisca is a highly-educated and skilled physician who has obtained a BS Public Health degree from the University of the Philippines Manila and a Doctor of Medicine degree from the De La Salle Medical Health Sciences Institute. She is a licensed physician and also a Registered Medical Technologist. She has received additional training in Hemodialysis for Non-Nephro Physicians on duty and has completed online courses in related fields like depression in populations from John Hopkins University and positive psychiatry from The University of Sydney. Currently, she is pursuing a Master of International Health in the University of the Philippines.
Dr. Krisca is known for her outstanding skills and compassionate approach to healthcare that make a positive impact on people’s lives. Through her passion for healthcare, she hopes to make a difference in the world and help people lead healthier, happier lives.