This is the third blog post in the series of posts focused on the G6PD gene and G6PD deficiency. In this blog post, I will provide an overview of the G6PD deficiency with focus on symptoms and treatment. For other blog posts on the G6PD gene, please check the following list with corresponding links:
What are the causes of G6PD deficiency?
G6PD deficiency is caused by changes in the human genetic code, an inherited condition. Lack of G6PD leads to G6PD deficiency, which results in early degradation of red blood cells. G6PD-deficient persons develop a disease only under specific circumstances and triggers, such as food, drugs, infections, etc. [citation].
Is G6PD deficiency serious? How serious is G6PD deficiency?
All G6PD mutations, except G6PD A variant, are associated with more or less severe enzyme deficiency but never complete activity loss. Researchers have shown that mutations in non-conserved amino acid regions are less important for G6PD deficiency [citation].
In most patients, hemolytic anemia is triggered by an exogenous agent, such as some drugs, food, or infection [citation].
In newborns, for example, G6PD deficiency is associated with an increased risk of jaundice, and improper access to treatment can have consequences for the neurological system. Unique risks are related to G6PD-deficient homozygous baby boys and G6PD-deficient heterozygous baby girls [citation].
In some cases, lethal situations are reported, such as death or kidney failure. So, it is essential to screen this genetic condition properly in newborns, as well as in adults in order to prevent any negative circumstances and to enable a healthy lifestyle to patients [citation].
Is G6PD deficiency life-threatening?
G6PD deficiency, which results in hemolytic anemia, can be life-threatening, especially in children. However, it is important to recognize the symptoms and react in time to avoid consequences such as kidney failure. Most people have a completely everyday life if they avoid certain drugs or food [citation]. Acute hemolytic anemia in G6PD deficient children or adult is a medical emergency that, if not promptly and appropriately treated, can be fatal [citation].
Is G6PD deficiency an autoimmune disease?
No, G6PD deficiency is not an autoimmune disease.
Why is it important for medical doctors to know if your patient has G6PD deficiency?
Information about G6PD deficiency is important because it can lead to serious medical conditions such as hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. Also, some external conditions can lead to this medical disorder, such as drugs that lead to hemolytic anemia in patients with G6PD deficiency [citation].
Is G6PD a disability?
Individuals with Class I G6PD deficiency may be eligible for disability benefits from the U.S. Social Security Administration.
What is the relation between G6PD deficiency and COVID? Is G6PD high risk for COVID?
Yes, there is evidence of the association between G6PD deficiency and COVID-19 infection. Wu et al. found that viral gene expression was higher in cells that are G6PD deficiency, and they also proved that viral production lasts longer or higher over time when compared to normal cells (control) [citation].
What foods should G6PD-deficient individuals should avoid?
There is a limited number of publications related to lists of food that may be avoided in case of G6PD deficiency. Still, in one of those, it is recommended that fava beans naphthalene and aniline dyes should be avoided by G6PD-deficient individuals. In addition, the food coloring agent 1-phenylazo-2-naphthol-6-sulphonic acid should be consumed with caution [citation].
Also, there is a list of food and chemicals for which there is no evidence to contraindicate their use, and those are: Pumpkin Unripe peaches, Vicia sativa, Fenugreek seeds, flower pollen, synthetic cannabinoids, silver sulfadiazine, Hoya carnosa, Menthol, Aluminium phosphide, Vicia faba.
What happens when G6PD deficiency is triggered?
In people with G6PD deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or certain drugs (such as some antibiotics and medications used to treat malaria). Treatment is geared toward the avoidance of these and other stressors. Also, more about drug labeling related to the G6PD deficiency can be read in the final blog post in this series you can check here.
What are the symptoms of G6PD deficiency?
Most cases of G6PD are asymptomatic for the majority of life, and mostly, triggers for those cases are certain drugs, foods, stress, and infections. If we talk about the symptoms of diseases caused by G6PD deficiency; acute hemolytic anemia, symptoms include paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath and a rapid heart rate [citation].
What happens if you have G6PD deficiency?
If a person has mutations in the G6PD gene, prevention is critical to avoid the negative consequences of G6PD deficiency (hemolytic anemia), but there is no special treatment for mutations. Most people live without symptoms, especially if they have a healthy lifestyle and are not subject to particular stress, medications, fava beans, infection, and the like. What is important is the prevention and treatment of jaundice in newborns to prevent brain damage. If a specific mutation is known to be present in a family line, tests to detect that particular mutation can also be conducted.
What are the complications of G6PD deficiency?
Complications are more related to the negligence of patients if, for example, they do not prevent the unwanted consequences of GPD deficiency.
Complications can occur in newborns if not tested after jaundice. Complications include brain damage [citation].
There are some types of medication, according to Youngster et al. that should be avoided in patients with G6PD deficiency before diagnostic test, and those are: primaquine, dapsone, rasburicase, methylene blue (discussed in connection with rasburicase), nitrofurantoin, and phenazopyridine [citation]. The review by the American Centers for Disease Control and Prevention (CDC) recommends great caution when administering primaquine to individuals with any degree of G6PD deficiency [citation].
How is G6PD treated? Is G6PD curable?
In the treatment of G6PD deficiency, prevention is paramount. This is a life-long condition, and most people live their everyday lives. The most important thing is to remove triggers such as stress, drugs that are unsuitable for patients with G6PD deficiency, a particular food, infections, etc.