by Matt Weik, BS, CSCS, CPT, CSN
G6PD deficiency is a genetic disorder characterized by insufficient glucose-6-phosphate dehydrogenase (G6PD) enzyme levels in the body. Now, you might be saying, “HUH?” And you’re definitely not alone. This enzyme plays a critical role in protecting red blood cells from damage and ensuring they function properly. Without enough G6PD, red blood cells are susceptible to breaking down, potentially leading to hemolytic anemia. This condition can be life-threatening and may require blood transfusions. The severity of symptoms varies depending on the type of G6PD deficiency an individual has, but it is essential to receive a proper diagnosis and treatment.
In this article, we are going to take a deeper dive and explore the causes, symptoms, and treatments for G6PD deficiency.
Disclaimer: This article is for informational purposes only and is not meant to treat or diagnose any condition, nor should it be taken as medical advice. It is recommended that you speak with your doctor if you feel you have a G6PD deficiency.
What is G6PD Deficiency?
G6PD deficiency is a genetic abnormality that leads to a low amount of glucose-6-phosphate dehydrogenase (G6PD) in the blood. This is an important enzyme that helps in the regulation of many biochemical reactions in our body.
In addition to protecting red blood cells from harm, G6PD also ensures they remain healthy and function correctly throughout their lifespan. When there is an insufficient amount of G6PD present in the body, red blood cells can break down prematurely, a process known as hemolysis. Over time, this can result in hemolytic anemia, a condition in which the body cannot produce enough red blood cells to meet its needs.
Hemolytic anemia is a condition that arises when red blood cells break down at a faster rate than the body can replace them. As a result, there is a reduced supply of oxygen to the body’s organs and tissues, leading to a range of symptoms such as fatigue, shortness of breath, and jaundice.
G6PD deficiency is mostly found in Africa, where it can affect up to 20% of the population and is more commonly seen in men than in women.
While many individuals with G6PD deficiency don’t experience symptoms, some may develop symptoms when exposed to specific triggers such as medication, certain foods, or infections. Treatment of the underlying cause is essential to alleviate symptoms, which typically disappear within a few weeks after the trigger has been removed.
The Causes of G6PD Deficiency
G6PD deficiency is considered to be a genetic condition that is inherited from one or both parents. It’s caused by a faulty gene on the X chromosome, one of the two sex chromosomes.
If a male inherits this gene mutation, he’ll have G6PD deficiency because he only has one X chromosome. Females, on the other hand, need both copies of the gene to be mutated to develop the condition, although in some cases, one mutated copy can cause symptoms.
Interestingly, this also means that females can be carriers of the condition without experiencing any symptoms themselves. However, one mutated gene copy is enough for men to cause G6PD deficiency. This gender difference is due to the fact that males have only one X chromosome, while females have two. Understanding the genetic basis of G6PD deficiency and its impact on different genders is vital to help individuals and families make informed decisions about their health.
Symptoms of G6PD Deficiency
Here are some of the symptoms of G6PD deficiency:
- Shortness of breath
- Rapid heart rate
- Dark or yellow-orange colored urine
It should be noted that just because you are experiencing some of the symptoms above, it does not mean that you have a G6PD deficiency, as many of the symptoms listed are fairly common for other illnesses.
Treatment of G6PD Deficiency
Treatment of G6PD deficiency consists of restricting the trigger that is causing the symptoms. If the condition is caused by an infection, then the underlying infection must be treated accordingly. Any current medication that may be affecting red blood cells should be discontinued. In such cases, most people can recover from G6PD deficiency-related problems on their own.
In severe cases, when G6PD deficiency leads to hemolytic anemia, hospitalization may be necessary for treatment. The aim of treatment is to replenish the oxygen and red blood cell levels in the body. Oxygen therapy and blood transfusions may be given to patients. In the hospital, healthcare providers closely monitor the patient’s condition to ensure that the treatment is effective and there are no complications.
Recovery from hemolytic anemia may take some time, and patients may need to stay in the hospital for several days until their condition improves.
Can a G6PD Deficiency Be Cured?
G6PD deficiency is a genetic condition with no known cure, but several ways exist to manage the symptoms. Healthcare providers can advise on foods and medications to avoid triggering the condition. Here are some additional tips to reduce oxidative stress and prevent hemolytic anemia:
- Limit alcohol consumption to avoid excessive oxidative stress
- Quit smoking to reduce the number of free radicals in the body
- Exercise regularly but avoid overexertion, which could increase oxidative stress
- Get enough rest to support the immune system and prevent infections that could trigger the condition
- Manage stress levels through techniques like meditation, deep breathing, or therapy to reduce the risk of triggering symptoms