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G6PD Deficiency - Causes, Symptoms, Diagnosis and Treatment

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G6PD deficiency is an enzyme problem that predominantly affects males. Read this article to know more.

Written by

Dr. Lochana .k

Medically reviewed by

Dr. Vijay Kumar Kumawat

Published At April 22, 2022
Reviewed AtJanuary 30, 2024

What Is Glucose-6-Phosphate-Dehydrogenase?

Glucose-6-phosphate-dehydrogenase is an enzyme that is involved in the metabolism of the body. They play a vital role in protecting red blood cells from premature destruction and damage. The vital role of this enzyme is the prevention of oxidative damage. It is a mandatory enzyme, but it is required for the normal functioning of the body.

What Is Glucose-6-Phosphate-Dehydrogenase Deficiency?

Glucose-6-phosphate-dehydrogenase deficiency is known to be a genetic problem that occurs only in males. A deficiency of glucose-6-phosphate-dehydrogenase directly affects the red blood cells. The oxygen-carrying capacity from the lungs is greatly reduced. Poor oxygenation of the tissues might result in several health issues. In addition to this, the affected individuals also face premature destruction of red blood cells when the actual destruction should happen after 120 days. This type of improper damage of the red blood cells is termed hemolysis. A deficiency in the glucose-6-phosphate-dehydrogenase is the main reason for the occurrence of jaundice in young patients.

What Is the Epidemiology of Glucose-6-Phosphate-Dehydrogenase Deficiency?

There are more than 300 reported variants of glucose-6-phosphate-dehydrogenase deficiency in the United States of America. Black-skinned men are most commonly affected. The rate of prevalence is noted to be around ten percent. Medical reports from different geographic regions suggest that there is a strong correlation between glucose-6-phosphate-dehydrogenase deficiency and malaria. Medical researchers believe that patients who are affected with glucose-6-phosphate-dehydrogenase deficiency have protection against malarial infection to a certain extent. A lower level of glucose-6-phosphate-dehydrogenase makes it hard for the malarial parasite to attack the red blood cells of the human body.

People who belong to the following regions are affected more.

  • The Middle East.

  • Papua New Guinea.

  • Tropical Africa.

  • Some areas of the Mediterranean.

  • Tropical and subtropical Asia.

Who Is at Risk for G6pd Deficiency?

Some people have a disorder called G6PD deficiency from birth. In other groups, it is more prevalent. Men are typically more vulnerable than women. This insufficiency is particularly common in people of specific ethnic backgrounds, such as those of African, Mediterranean, or Southeast Asian descent.

A person may be more vulnerable if they originate from these backgrounds or have family members who have G6PD deficiency. It is critical to understand this since individuals with this impairment may experience issues with specific meals or medications. A person should consult their physician if they suspect they may have it.

What Are the Consequences of People Living With G6pd Deficiency?

The consequences can include:

  • Anemia means having fewer red blood cells, and it can make a person feel tired and weak.

  • Sometimes jaundice may occur, and their characteristic features are the skin and eyes might turn yellow because the liver is having trouble breaking down a substance from the damaged red blood cells.

  • Certain things, like certain foods or medications, can trigger the quick breakdown of red blood cells, leading to a sudden drop in their numbers.

What Are the Causes for Glucose-6-Phosphate-Dehydrogenase Deficiency?

The main cause of glucose-6-phosphate-dehydrogenase deficiency is the mutation in the G6PDG. The G6PDG gene interrupts the normal functioning of carbohydrates. Various chemical reactions that take place result in toxic levels of red blood cells. Some infectious agents might result in hemolysis conditions. They include:

  • Salmonella.

  • Escherichia coli.

  • Beta-hemolytic streptococci.

  • Rickettsial infections.

  • Viral hepatitis.

  • Influenza A.

What Are the Symptoms of G6PD Deficiency?

Some patients do not express any signs and symptoms. The common symptoms of glucose-6-phosphate-dehydrogenase deficiency are:

  • Shortness of breath.

  • Rapid heart rate.

  • Fever.

  • Urine that is dark or yellow-orange.

  • Dizziness.

  • Fatigue.

  • Jaundice, or yellowing of the skin and whites of the eyes.

  • Paleness.

  • Heart murmur.

  • Difficulty in performing normal physical activity.

What Are the Triggering Factors for Glucose-6-Phosphate-Dehydrogenase Deficiency?

There are no specific triggers for glucose-6-phosphate-dehydrogenase deficiency. However, the factors that are known to trigger the condition of hemolytic anemia can also trigger glucose-6-phosphate-dehydrogenase deficiency.

The well-known triggering factors are listed below.

  • Certain antibiotics.

  • Aspirin, and products that have aspirin.

  • Mothballs.

  • Fava beans.

In kids, there are other triggers also. They are:

  • Bacterial and viral infections.

  • Painkillers medications.

  • Antibiotics.

  • Antimalarial drugs.

  • Naphthalene balls. It can be very harmful if a kid swallows it.

How Can We Overcome Glucose-6-Phosphate-Dehydrogenase Deficiency in Kids?

Protecting the kids from the harmful effects of glucose-6-phosphate-dehydrogenase deficiency is totally in the hands of the parents. Proper supervision is required as the kids are always exposed to several trigger factors. Since a few medications can elevate the risk of glucose-6-phosphate-dehydrogenase deficiency, parents should always get an opinion or prescription from a professional doctor. Getting a second opinion is a high-level safety behavior. You can contact iCliniq.com for this purpose.

How Is Glucose-6-Phosphate-Dehydrogenase Deficiency Diagnosed?

  • The diagnosis of glucose-6-phosphate-dehydrogenase deficiency is made by the G6PD test.

  • The level of glucose-6-phosphate-dehydrogenase is measured in the G6PD test. This test is specifically used to identify the inherited disorder. The usage of this test is predominantly noted

  • in Africa, Asia, and the Mediterranean.

  • The doctor will request you to go for a G6PD test only under the following cases.

  • Enlarged spleen.

  • Red or brown urine.

  • Fatigue.

  • Jaundice.

  • Shortness of breath.

  • Pale skin.

  • Fainting.

  • Rapid heart rate.

  • It is better to proceed with this test under medical supervision. There are some risks while collecting the sample for the G6PD test. They are,

  • Excessive bleeding.

  • Fainting.

  • Hematoma.

  • Infection at a puncture site.

Preparation: The patient should inform the medication history of the doctor. There are a few criteria for performing this test. G6PD test should not be done immediately after the procedure of blood transfusion. Also, drugs that contain sulfa components can interfere with the blood of patients with glucose-6-phosphate-dehydrogenase deficiency. Therefore, the test is delayed in patients who have consumed these medications. In addition to this, if the patient is experiencing an episode of hemolytic anemia, these tests should be performed after the recovery of the patient. If the test proceeds in such cases, abnormal false results will be obtained.

Molecular Genetic Testing: In patients who are suspected of having genetic issues, doctors will recommend molecular genetic testing.

What Are the Treatment Options for Glucose-6-Phosphate-Dehydrogenase Deficiency?

Most of the patients do not require any additional treatment plan. The most effective way to get relief from glucose-6-phosphate-dehydrogenase deficiency is by following ideal precaution measures. If a particular drug is causing hemolytic anemia, then the drug should be discontinued under proper medical guidance. An inadequate supply of blood to all the organs might result in hemodynamic shock. In such cases, short-term treatment with fluids might be necessary. The procedure of blood transfusion is more recommended for children than adults.

Conclusion:

Some general measures such as avoiding the following medications should be followed by the affected individuals. They are Dapsone., Nalidixic acid, Rasburicase, Flutamide, Mafenide cream, Nitrofurantoin, Phenazopyridine, Primaquine, Sulfacetamide, Sulfamethoxazole, and Sulfanilamide. In addition, some medical research is going on to identify the advanced medications that can prevent an individual from oxidative damage.

Frequently Asked Questions

1.

What Are G6PD Foods to Avoid?

Certain foods like falafel, chickpeas, broad beans, green peas, peanuts, lentils, black-eyed peas, and substances such as aniline dyes and henna should be avoided to prevent the serious symptoms of G6PD deficiency.

2.

Can G6PD Be Cured?

G6PD deficiency is a chronic disease with no known cure. However, most people with G6PD deficiency lead normal lives if they avoid the triggers.

3.

What Is G6PD Allergic To?

G6PD deficiency is allergic to certain medications, foods, and infections. Common triggers include fava beans, some antibiotics like sulfonamides, antimalarial drugs, and infections like viral hepatitis. These triggers can cause oxidative stress and lead to hemolytic anemia in individuals with G6PD deficiency.

4.

What Happens to a Baby With G6PD?

G6PD-deficient babies appear normal at birth. They could develop infant hemolysis and neonatal jaundice, which could be fatal or seriously harm their nervous systems. Apart from serious difficulties in the newborn period, infants with G6PD deficiency have normal growth and development.

5.

Is G6PD Serious?

G6PD is hereditary when the body does not produce enough of the enzyme glucose-6-phosphate dehydrogenase (G6PD). G6PD can cause serious hemolytic anemia that needs blood transfusions.

6.

Is G6PD Life-Threatening?

Red blood cells may degrade more quickly than certain triggers can replace them. In this case, a person with G6PD deficiency may develop acute hemolytic anemia (AHA), which can be fatal, especially in children.

7.

At What Age Is G6PD Diagnosed?

G6PD deficiency is usually present from birth and can be diagnosed shortly after. Newborn screening tests are often conducted to identify the condition. In some cases, symptoms might become apparent as an infant or child is exposed to triggers that lead to hemolysis (red blood cell breakdown), prompting further diagnostic testing. 

8.

Does G6PD Affect the Brain?

The brain is the organ that is most susceptible to oxidative stress. Impaired G6PD activity is directly involved in the oxidative stress metabolism imbalance that leads to neurodegeneration.

9.

Does G6PD Affect Weight?

No, G6PD deficiency does not directly affect weight. G6PD is an enzyme deficiency that can lead to red blood cell breakdown, causing anemia. It does not have a direct impact on weight gain or loss. However, the condition might influence a person's overall health, which could indirectly affect weight through factors like diet and activity level.

10.

Can G6PD Donate Blood?

If a person has G6PD or thalassemia, they must inform a medical professional. The doctor will suggest donating plasma or platelets rather than whole blood because G6PD and thalassemia are serious medical conditions that impact red blood cells.

11.

Is Peanut Good for G6PD?

Yes, in general, peanuts are considered safe for individuals with G6PD deficiency. However, it is important to consume them in moderation, as excessive intake might lead to oxidative stress due to their high-fat content. As with any dietary choices, it is best to consult a medical professional for personalized advice based on individual health needs.

12.

Does G6PD Improve With Age?

G6PD deficiency itself does not typically improve with age; it is a genetic condition that remains constant throughout one's life. However, some people might experience fewer severe episodes of hemolysis (red blood cell breakdown) as they age, possibly due to lifestyle changes and avoiding trigger substances. 

13.

What Is the Normal Result of G6PD?

A normal result of a G6PD test indicates that the individual has sufficient levels of the G6PD enzyme, which helps protect red blood cells from oxidative damage. This means they don't have G6PD deficiency and are less likely to experience hemolysis (red blood cell breakdown) triggered by certain factors like infections or specific foods.

14.

Why Do Babies Get G6PD?

Children can get G6PD and are born with it due to genetic inheritance from one or both parents. The X chromosome contains the gene that causes this disease.

15.

What Foods Are Good for G6PD?

Antioxidant-rich foods such as tomatoes, berries, pomegranates, apples, oranges, grapes, dates, spinach, sunflower seeds, walnuts, apricots, and prunes are recommended to receive adequate complex carbs as the prevalence of diabetes is high in G6PD individuals.
Dr. Vijay Kumar Kumawat
Dr. Vijay Kumar Kumawat

General Medicine

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