G6PD is a crucial enzyme or protein that is responsible for regulating several biochemical functions in the human body. Apart from that, G6PD keeps the RBC (red blood cells) in a healthy state ensuring that they function at an...
Introduction
G6PD deficiency or Glucose-6-phosphate dehydrogenase deficiency is a genetic problem and people plagued by it have insufficient amounts of glucose-6-phosphate dehydrogenase (G6PD) in their blood.
G6PD is a crucial enzyme or protein that is responsible for regulating several biochemical functions in the human body. Apart from that, G6PD keeps the RBC (red blood cells) in a healthy state ensuring that they function at an optimum level and have a normal life span.
When there isn’t enough G6PD, it results in premature breakdown of the red blood cells. This phenomenon is called hemolysis, a condition that can eventually lead to hemolytic anemia.
It is important to note that G6PD deficiency can also lead to (mild to severe) jaundice in newborns. Many people who have this disorder might never experience any signs or symptoms and could be unaware of having the condition.
What is Hemolytic anemia?
Hemolytic anemia is the condition when the red blood cells get destroyed at a rapid pace and at a greater speed than the body can replace them. As a result, the organs and tissues of the body get inadequate oxygen causing a lot of problems like fatigue, shortness of breath, and the skin and eyes turning yellow.
For those who have a deficient level of G6PD, hemolytic anemia can show up after consuming certain legumes and fava beans. The condition may also get aggravated by infections or by certain medicines such as anti-malarial drugs (medication given to prevent and treat malaria), sulfonamides (medication for treating various infections), aspirin, some NSAIDs (non-steroidal anti-inflammatory medications), etc.
G6PD deficiency is more prevalent in men than in women.
Symptoms of G6PD Deficiency
Usually, many people with G6PD deficiency don’t exhibit any symptoms. However, some people may develop symptoms when they get exposed to certain medications, infections, and food that can cause the early destruction of red blood cells.
For people who have symptoms of G6PD deficiency may experience:
- A rapid heart rate
- Fever
- Shortness of breath
- Fatigue
- Dark or yellow-orange colored urine
- Paleness
- Dizziness
- Jaundice (the skin and whites of the eyes turn yellowish)
The good thing about G6PD deficiency is that when the underlying cause is addressed or resolved symptoms gradually begin to disappear in a few weeks.
Causes of G6PD deficiency
G6PD deficiency is a genetic problem, which can be passed on by both or any of the parents to the child. The problematic gene responsible for G6PD deficiency is on the X chromosome (men possess one X chromosome and women have two X chromosomes). In men, just one altered copy of the gene can cause G6PD deficiency.
Women are generally affected only when there is a mutation in both copies of the gene, although, in a few rare instances, women with even one G6PD mutation may experience symptoms. As females have two X chromosomes, males are more prone to G6PD deficiency compared to females.
Risk factors for G6PD deficiency
Some of the risk factors of having G6PD deficiency may be:
- If you are a male
- If you are African-American
- If you have a Middle-East descent
- If you have a genetic predisposition to the condition
However, it is not certain that qualifying for one or more of these risk factors would result in G6PD deficiency. So, consult with a doctor if you’re worried about the risk of developing the condition.
Diagnosing G6PD deficiency
G6PD deficiency is diagnosed with a simple blood test that checks the level of the G6PD enzyme. There are also other diagnostic techniques like total blood count, serum hemoglobin test, and reticulocyte count.
These tests provide vital information on the red blood cells in the body, giving the doctor a clue about hemolytic anemia, and beginning subsequent treatment.
A person should also divulge to the doctor every detail related to diet, current medications, and other conditions, which will help the physician with the diagnosis.
Treatment of G6PD deficiency
In general, the treatment to address G6PD deficiency is to counter the underlying reason. Removing the root cause responsible for the symptoms solves the problem.
For example, if the condition is due to an infection, then doctors treat the underlying infection, which resolves the issue. If any current medications play a role in destroying red blood cells, the doctor advises to discontinue them. So, in these cases, most people gain recovery from an episode easily on their own.
But, if the G6PD deficiency has turned into hemolytic anemia, then it calls for more intensive treatment. In this case, doctors may resort to oxygen therapy. A blood transfusion may also be considered to replenish the levels of oxygen and red blood cells.
Patients will need to stay in the hospital or facility while undergoing these treatments. Severe hemolytic anemia is critical a condition and needs close monitoring so that patients gain a full recovery without facing any complications.
Conclusion
So, we have seen that most people with G6PD deficiency may never have any signs or symptoms of the disorder. People usually recover once the conventional treatment starts and the underlying trigger has been addressed. But, they should also be aware of managing the condition and thereby prevent the symptoms from worsening.
To manage G6PD deficiency one has to shun foods and medications that can aggravate and trigger the condition. One should try to reduce stress levels as it can also help in keeping symptoms under control. The doctor can give a handout, listing all the medications and foods that a patient should avoid.
FAQs
Is G6PD deficiency a problem?
In some cases, G6PD deficiency can be an issue. It may snowball into serious medical complications in people, such as hemolytic anemia in adults and acute jaundice in newborns. Also, anemia symptoms have the characteristic to grow very fast, causing hemolytic crisis symptoms that would require immediate medical intervention. Consult your doctor if you have any doubts regarding the symptoms.
What should people with G6PD deficiency not eat?
A person with G6PD deficiency should not eat fava beans. For some people avoiding red wine is also necessary, and they should not avoid eating all beans, soya products, blueberries, tonic water, and camphor.
Is G6PD a lifetime disease?
G6PD deficiency is not a contagious disease, which means it cannot spread from one person to another. There is no particular treatment or cure for G6PD deficiency, and hence it is a lifelong condition. But, the good thing is that most people having G6PD deficiency lead a completely normal life if they can avoid the triggers.
Can G6PD eat peanuts?
Doctors generally advise people with G6PD deficiency to avoid all legumes, including peanuts. But there is no specific mention in any source about any problem regarding this.
Which vitamin should people with G6PD deficiency avoid?
People with G6PD deficiency should avoid Vitamin K because it is a fat-soluble vitamin and plays a major role in the synthesis of clotting factors. Since vitamin K may likely decrease glutathione concentrations in normal infant erythrocytes, it is believed that it may lead to hemolysis in G6PD-deficient infants.
Can G6PD-deficient people eat flour?
The most problematic carbohydrates, in this case, are white flour, refined sugars, and high fructose corn syrup. Other foods that may lead to G6PD deficiency syndromes include tonic water, products that use blue food coloring and those that contain sulfites, including wine and dried fruits.
Can G6PD deficient people eat paracetamol?
Paracetamol can indeed cause hemolysis, however, the risk is very low and hence can be given in normal doses. But this is contradictory in the case of severely G6PD deficient people or for those who suffer from chronic non-spherocytic hemolytic anemia.
Does G6PD deficiency affect weight?
The findings show a complex interplay between diet-induced metabolic effects and G6PD deficiency. It has been observed that G6PD deficiency decreases weight gain and hyperinsulinemia with DIO. But, at the same time, it elevates serum-free fatty acids, without affecting glucose tolerance.
Is folic acid good for G6PD?
For people with the form of G6PD deficiency linked to chronic hemolysis, their physicians may prescribe a drug called folic acid. This is a vitamin supplement that helps the bone marrow in keeping up with the heightened production demands required to produce the extra red blood cells.
What is G6PD deficiency in females?
G6PD (Glucose-6-phosphate dehydrogenase) deficiency is a common genetic trait linked to the X chromosome, with an associated enzyme phenotype. So, males are either G6PD deficient or normal. On the other hand, females show a broader range of G6PD deficiencies, ranging from severe to normal in deficiency.
What organ does G6PD affect?
G6PD (Glucose-6-phosphate dehydrogenase) deficiency is a genetic problem that affects red blood cells. The red blood cells are responsible for carrying oxygen from the lungs to tissues throughout the human body. In people plagued by G6PD deficiency, a defect in an enzyme called glucose-6-phosphate dehydrogenase, leads to a breaking down of the red blood cells prematurely.
