G6PD Deficiency: Managing This Genetic Disorder and Avoiding Triggers

What is G6PD deficiency?

G6PD deficiency is an inherited metabolic disorder caused by a deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD). This enzyme is crucial for protecting red blood cells from oxidative stress and damage caused by reactive oxygen species.

Individuals with low levels of G6PD are at higher risk of red blood cell destruction, leading to hemolytic anaemia, a condition characterised by fatigue, jaundice, and shortness of breath. The deficiency can be triggered by certain medications, infections, or foods like fava beans. Management often involves avoiding triggers and monitoring for symptoms to prevent complications related to anaemia.

Who is affected by G6PD deficiency?

G6PD deficiency primarily affects males due to its X-linked recessive inheritance pattern, making them more susceptible than females. Individuals from various ethnic backgrounds are affected, particularly those of African, Middle Eastern, Mediterranean, and Asian descent. Approximately 1 in 10 African-American males in the United States has G6PD deficiency.

The common G6PD deficiency causes include certain medications, infections, and consumption of specific foods like fava beans. G6PD deficiency symptoms can manifest as fatigue, jaundice, shortness of breath, and dark urine, which can arise after exposure to these triggers. Awareness of these symptoms is crucial for effective management.

What causes G6PD deficiency?

G6PD deficiency causes include mutations in the G6PD gene, which is located on the X chromosome. This gene is responsible for producing the enzyme glucose-6-phosphate dehydrogenase (G6PD), which plays a crucial role in protecting red blood cells from oxidative damage. There are over 400 known mutations of this gene, leading to varying degrees of enzyme deficiency among individuals.

While both males and females can carry the mutated gene, the inheritance pattern is X-linked recessive. As a result, males are more likely to be affected by G6PD deficiency since they have only one X chromosome. Females, possessing two X chromosomes, may be carriers of the mutated gene but are less likely to show symptoms due to the presence of a functioning gene on the other X chromosome. This phenomenon is further complicated by random X-chromosome inactivation, which can lead to variable expression of the disorder among females.

Understanding the genetic basis of G6PD deficiency is essential for identifying at-risk individuals and implementing appropriate management strategies. Genetic counselling may be recommended for families with a history of G6PD deficiency, especially for pregnant women, to assess the risk for their children.

What factors trigger hemolysis and other conditions related to G6PD deficiency?

Several factors can trigger hemolysis in individuals with G6PD deficiency.

• Certain infections, particularly those caused by viruses and bacteria, can increase oxidative stress on red blood cells.
• Specific medications, such as some anti-malarial drugs and sulfonamides, can also provoke hemolysis.
• Additionally, consuming fava beans is a well-known trigger, as they contain compounds that induce oxidative stress.
• Exposure to specific chemicals, like those found in industrial products or some food preservatives, can exacerbate the condition. These triggers lead to increased oxidative stress, causing the premature breakdown of red blood cells, resulting in symptoms like fatigue, jaundice, and dark urine.

Understanding these triggers is crucial for managing G6PD deficiency effectively.

Why are males more likely to have G6PD deficiency?

Males are more likely to have G6PD deficiency because they only have one X chromosome. If their single X chromosome carries the mutated G6PD gene, they will express the deficiency. In contrast, females have two X chromosomes, so both would need to carry the mutated gene or there would need to be unfavourable X-chromosome inactivation for them to be affected.

What are G6PD deficiency symptoms?

Common G6PD deficiency symptoms include pale skin and jaundice, which presents as yellowing of the skin and eyes. Individuals may also experience dark-coloured urine, fatigue, and weakness. Shortness of breath, rapid heartbeat, and an enlarged spleen can occur due to the breakdown of red blood cells and the subsequent complications that arise from hemolytic anaemia.

What are hemolytic crisis symptoms?

Hemolytic crisis symptoms include sudden fatigue, weakness, and pallor due to rapid red blood cell breakdown. Individuals may experience jaundice (yellowing of the skin and eyes), dark urine, shortness of breath, increased heart rate, and abdominal pain, particularly in the spleen area. These symptoms require immediate medical attention.

What symptoms are common for newborns who have G6PD deficiency?

Newborns with G6PD deficiency may exhibit:

• Severe jaundice requiring phototherapy or exchange transfusion
• Kernicterus, a condition where high bilirubin levels damage the brain.

These symptoms typically appear within the first few days of life and require immediate management to prevent long-term complications.

How to diagnose G6PD deficiency?

G6PD deficiency diagnosis involves a simple blood test that measures the G6PD enzyme level in red blood cells. This test is recommended for individuals with a family history of the condition, those from high-risk ethnic groups, or those presenting with unexplained anaemia or jaundice.

What tests are used to diagnose G6PD deficiency?

For G6PD deficiency diagnosis, healthcare providers typically begin with the G6PD enzyme assay, which measures the activity of the G6PD enzyme in red blood cells. A low level indicates a deficiency.

Additional tests may be performed to evaluate the overall health of the blood and liver, including a complete blood count (CBC), which assesses the number of red blood cells, haemoglobin levels, and bilirubin levels to check for jaundice.

A reticulocyte count helps gauge bone marrow response, while serum aminotransferases and lactate dehydrogenase (LDH) levels provide insights into liver function and cell breakdown.

Lastly, a peripheral blood smear can reveal morphological changes in red blood cells indicative of hemolysis.

How to treat G6PD deficiency-related conditions?

G6PD deficiency treatment focuses on managing symptoms and preventing triggers:

• Avoid known triggers like fava beans, certain medications, and infections
• Use phototherapy for neonatal jaundice
• Perform exchange transfusions in severe cases of jaundice or hemolytic anaemia
• Provide blood transfusions for severe hemolysis
• Offer supportive care, including hydration and rest
• Promptly treat any underlying infections

How can I prevent G6PD deficiency?

Since G6PD deficiency is a genetic condition, it cannot be prevented. However, you can take steps to avoid triggers and manage the condition effectively:

• Learn about medications and foods to avoid
• Protect yourself from infections by practising good hygiene
• Inform your healthcare providers about your G6PD status
• Wear a medical alert bracelet or carry a card indicating your condition
• Educate family members about the disorder and its management

Is G6PD deficiency a life-threatening condition?

In most cases, G6PD deficiency is not life-threatening. However, severe hemolytic crises can lead to complications such as acute renal failure, shock, and even death if not promptly treated. Newborns with severe jaundice are also at risk of kernicterus, which can cause brain damage. Proper management and avoiding triggers can help prevent these serious complications.

Can G6PD deficiency be cured?

G6PD deficiency is a lifelong genetic disorder, and while there is currently no cure, effective management strategies can help individuals maintain their health. The key to living well with G6PD deficiency lies in understanding the condition and avoiding triggers that can lead to hemolytic crises.

Individuals are advised to stay away from specific medications, such as certain antibiotics and anti-malarial drugs, as well as foods like fava beans, which can exacerbate G6PD deficiency symptoms.

Regular monitoring by healthcare professionals is essential to manage any complications that may arise, such as anaemia. Education about the condition is also crucial, as it empowers individuals to make informed choices regarding their health.

When to see a doctor?

If you or your child experiences symptoms suggestive of G6PD deficiency, such as jaundice, dark urine, or unexplained fatigue, consult a healthcare provider promptly. Newborns with jaundice should be evaluated immediately. If you have a family history of G6PD deficiency or belong to a high-risk ethnic group, consider getting tested.

Conclusion

Understanding G6PD deficiency, its causes, symptoms, and management strategies is essential for individuals affected by this genetic disorder. By avoiding triggers, seeking prompt medical care when needed, and staying informed, you can effectively manage G6PD deficiency and maintain good health.

Metropolis Healthcare, a leading chain of diagnostic labs across India, offers accurate pathology testing and health check-up services, including tests for G6PD deficiency diagnosis. With a team of qualified blood collection technicians who make at-home visits and provide reliable results through their user-friendly TruHealth app, Metropolis Healthcare is committed to delivering personalised care to help you prioritise your health. Remember, with the right knowledge and medical support, managing G6PD deficiency and living a healthy life is well within your reach.