Healthy Living

What Is G6PD Deficiency?

G6PD Deficiency: Treatment, Causes, Symptoms, Diagnosis

Introduction

G6PD is actually an enzyme and G6PD deficiency occurs when there is a deficiency of this enzyme. This condition is not fatal, but in acute as well as in the chronic breakdown of red blood cells, it causes a spectrum of complaints such as jaundice. This condition is inherited and a common enzyme disorder in the world with almost 400 million people affected by it.  

G6PD deficiency is also known as glucose-6-phosphate dehydrogenase deficiency. It is identified as a genetic disorder, which mostly occurs in males than females.

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The red blood cells carry oxygen to the entire body from the lungs to the tissues. In this medical condition, these red blood cells are affected. There is a defect on the enzyme glucose-6-phosphate dehydrogenase in individuals who are affected by the disorder. Because of this defect, there is a premature breakdown of the red blood cells. This red blood cell destruction is also called as hemolysis. One of the most common medical issues associated with G6PD deficiency is hemolytic anemia.

The body is unable to replace the red blood cells when they are destroyed at a faster rate. When the individual suffers from this type of anemia, the symptoms experienced are paleness and yellowing of the skin and whites of the eyes, which indicate jaundice. Few of the other symptoms would include dark-colored urine, rapid heart rate, and shortness of breath. Those who suffer from a G6PD deficiency often experience hemolytic anemia, which can be triggered by a bacterial or viral infection or by the use of certain drugs, such as antibiotics or drugs used for the treatment of malaria.

Favism is also associated with G6PD deficiency. In this case, when fava beans or broad beans are consumed, oxidative stress and hemolytic anemia occur. In some people with a G6PD deficiency, the consumption of any type of legume causes a certain degree of hemolysis. Hemolytic anemia can also happen to some individuals when they inhale pollen from fava plants.

G6PD deficiency is known to be one of the significant causes of mild to severe jaundice seen in newborn infants. Most of the individuals suffering from this disorder would never experience any signs or symptoms, so they are often unaware of their condition. However, newborn screenings are widely available these days to detect such disorder in newborn babies. 

An estimated 300 to 400 million individuals worldwide have a G6PD deficiency. This condition is known to mostly occur in the regions of Africa, Mediterranean, Middle East, and Asia. In the United States, there have been one out of 10 African American males who are said to be affected by this disorder.

Causes 

G6PD deficiency is known to result from a defect in the G6PD gene. The G6PD gene provides commands to make the enzyme called glucose-6-phosphate dehydrogenase, which is involved in normal carbohydrate processing. G6PD also has an important role when it comes to protecting the body against damaging substances. For this reason, G6PD is normally present all over the body. 

This enzyme also plays an important role in preventing the reactive oxygen species from accumulating within the red blood cells to toxic levels. However, the amount of glucose-6-phosphate dehydrogenase will reduce or its structure will get altered if there is a mutation in the G6PD gene. Thus, the enzyme would no longer be able to play its role in protecting the red blood cells.

Certain factors are known to increase the level of reactive oxygen species. Factors include the use of certain drugs or the ingestion of fava beans. In such cases, the red blood cells are rapidly destroyed and the body may not be able to replace them. The signs and symptoms of hemolytic anemia may be caused by a significant reduction in the number of red blood cells. 

According to research, a person can partially get protected against malaria if he or she has a G6PD deficiency. Malaria is an infectious disease that is spread by a mosquito bite. It may become difficult for the organism to invade the red blood cells if there is a reduction in the number of functional glucose-6-phosphate dehydrogenase.

Males are more often affected by this order than females. Here's why:

A G6PD deficiency is said to be inherited with an X-linked recessive pattern. Females have two X chromosomes, so they also have two G6PD genes. If a girl inherits only one defective G6PD gene from one of her parents, she will not have a G6PD deficiency because she has another functional G6PD gene. However, if the girl inherits two defective genes from both of her parents, she will have the disorder. 

When it comes to males, if they inherit a defective G6PD gene, they will definitely have a G6PD deficiency since they have an XY chromosome, and the Y chromosome does not have a G6PD gene, leaving them without a functional G6PD gene. 

Symptoms

Some of the symptoms of G6PD deficiency would include:

  • Low-grade fever
  • Paleness
  • Rapid heart rate
  • Dark-colored urine 
  • Fatigue or tiredness
  • Jaundice (yellowing of the skin or the whites of the eyes)
  • Shortness of breath

Risk Factors

  • Being male
  • Has an African-American descent
  • Has a Middle Eastern descent
  • Has a family history of G6PD deficiency

Even if an individual has one or more of these risk factors, it does not necessarily mean he or she has a G6PD deficiency. It is recommended to speak with a doctor if you have risk factors and you are concerned with this condition. 

Diagnosis

To identify a G6PD deficiency, a simple blood test to check the G6PD enzyme level is carried out. Other diagnostic tests include a complete blood count, reticulocyte count, and a hemoglobin test. Measuring the number of red blood cells also helps doctors in diagnosing hemolytic anemia. 

  • Heinz bodies blood test - This test is used to detect the levels of Heinz bodies in the blood. Heinz bodies are usually present in an active G6PD deficiency. 
  • Liver function tests - These tests are done to rule out other causes of jaundice and liver damage.
  • Coombs test - This test is performed to check the presence of antibodies against the patient's red blood cells. 
  • Haptoglobin test - This test measures the levels of haptoglobin in the blood. Haptoglobin is produced in the liver and binds with hemoglobin, which is a protein found in RBCs. Red blood cells have a very important role in transporting oxygen all over the body.
  • Beutler test or fluorescent spot tests - This is a screening test to determine enzyme defects. 

G6PD deficiency is suspected when any of the symptoms mentioned above are present in a person who belongs to certain ethnic groups. In most children with G6PD deficiency and were not screened at birth, the condition goes unnoticed until the child develops a health problem.

Treatment

If G6PD deficiency runs in your family, a blood test can help you determine whether or not you carry the gene. To determine the specific variant of the gene mutation that you have, you can visit a specialized genetic laboratory. Avoid foods that cause serious allergic reactions. 

The symptoms are expected to go away after several weeks once the trigger is eliminated. The symptoms of anemia will improve once the body starts to naturally make new red blood cells. No further treatment is needed in this case. However, immediate treatment is needed for a hemolytic crisis. The patient most likely needs to be hospitalized along with a blood transfusion

Natural Treatments for G6PD deficiency

The best way to avoid the symptoms is by limiting one's exposure to the triggers. Moreover, high-risk medications should be avoided by people with G6PD deficiency. The following drugs should be avoided:

  • Aspirin
  • Antimalarial drugs
  • Quinine
  • Furazolidone
  • Sulfa drugs
  • Sulfadimidine

Also, avoid the chemical found in mothballs and moth crystals called as naphthalene. The doctor may sometimes prescribe risky medications, so whenever people with G6PD deficiency visit the doctor, they should inform the doctor about their condition first.

  • Problematic foods and drinks that should be avoided - There are 400 types of mutations in the G6PD gene. Thus, people taking certain foods may also differently react. Generally, blueberries, fava beans, foods rich in vitamin C, tonic water, food with artificial blue dyes, and foods that contain menthol should be avoided.
  • Child safety - Parents should inform the child’s school, friends, and other people when their child has a G6PD deficiency, so problematic reactions can be avoided. Children may not realize that certain foods are not meant or prohibited for them. Thus, keep a copy of the foods that they are supposed to avoid in their schoolbag.
  • Healthy diet and lifestyle - You cannot treat or cure a G6PD deficiency by eating a healthy diet or by following a healthy lifestyle since this condition is inherited. However, you can avoid the triggers to effectively manage your condition and improve the quality of life. 
  • Consume an anti-inflammatory diet - Highly processed foods should be avoided. These foods contain additives, dyes, and ingredients that are difficult to digest. You can nourish your spleen by consuming lots of probiotic foods, bitter foods, green leafy vegetables, squash, pumpkin, butternut squash, kefir, or yogurt. Get your daily dose of protein, iron, and fats from organ meats, grass-fed beef, eggs, poultry, fish, coconut, and olive oil. Unless you know for sure that legumes and beans are safe for you, always avoid them.
  • Get enough rest - Get an adequate amount of sleep and rest. Because of fatigue and weakness, it may be necessary to get more rest and sleep. Try to get at least 8 hours of sleep every night or more than that.
  • Manage stress - The immune system can be weakened because of stress, which can also worsen the symptoms of hemolytic anemia. You can manage your stress by doing gentle exercises, meditation, yoga, reading, or journaling. 

Precautions

If the symptoms come suddenly and if they are severe, then a hemolytic crisis may be experienced by some people. In such cases, emergency medical attention is required. Other symptoms that require emergency medical care include difficulty breathing, a change in skin color, a sudden change in body temperature, and a rapid heart rate. 

Your symptoms will be reviewed by a healthcare provider and you will be asked about any problematic foods that you had or any recent drugs that must have triggered your symptoms. If you feel that your symptoms are triggered by certain foods or drugs, get medical help right away.

Key Takeaways

  • G6PD deficiency is also known as glucose-6-phosphate dehydrogenase deficiency. It is identified as a genetic disorder, which mostly occurs in males than females.
  • Avoiding foods that trigger the condition is the best treatment. In severe cases, hospitalization and blood transfusion are required.
  • The symptoms are expected to go away after several weeks once the trigger is eliminated. The symptoms of anemia will improve once the body starts to naturally make new red blood cells.