G6PD Deficiency

Types Of G6PD Deficiency

The World Health Organization (WHO) classifies G6PD deficiency into categories based on residual enzyme activity and associated hemolysis risk:

Class A (Chronic, CNSHA)

• Median G6PD activity is  less than 20%

• Chronic nonspherocytic hemolytic anemia is seen 

• This class includes severe, chronic hemolytic anemia typically seen in certain populations.

Class B (Acute, Triggered)

• Median G6PD activity is less than 45%

• Acute, triggered type of hemolysis

• Individuals with Class B experience hemolysis triggered by factors like infections or certain medications.

Class C (No Hemolysis)

• Median G6PD activity is between 60% and 150%

• There is no hemolysis

• These individuals generally do not exhibit symptoms, even with exposure to triggers.

Class U (Uncertain Clinical Significance)

• Median G6PD activity can be of any level

• New or uncertain variants with unclear impacts on hemolysis.

Symptoms Of G6PD Deficiency

Individuals with G6PD deficiency remain asymptomatic throughout their lifetime until they are exposed to an external agent that triggers clinical manifestations.

When exposed to triggers, G6PD deficient are at risk of the following conditions:

• Hemolytic anemia (destruction of red blood cells)

• Neonatal jaundice (yellowing of the skin and eye due to the deposition of a pigment called bilirubin in newborns) usually appears within 24 hours after birth. 

• Chronic spherocytic anemia (premature destruction of red blood cells)

The signs and symptoms of these conditions include:

• Dark coloured urine

• Pale skin

• Lethargy

• Fever

• Weakness

• Dizziness

• Confusion

• Trouble with physical activity

• Enlarged spleen and liver

• Increased heart rate

Some persons may have right upper quadrant tenderness due to increased bilirubin (pigment produced due to the breakdown of red blood cells). 

The high level of bilirubin is a maker of several disorders such as jaundice, anemia, and liver disease. Get your bilirubin level checked if you are noticing the above symptoms.
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Causes Of G6PD Deficiency

To understand the cause let us first understand what is G6PD:

• G6PD stands for glucose-6-phosphate dehydrogenase, an enzyme in nearly all body cells.

• It helps protect cells from reactive oxygen species (ROS), which are unstable molecules that can cause cell damage.

• G6PD produces glutathione, an antioxidant that neutralizes ROS.

• Red blood cells, being involved in oxygen transport, are more vulnerable to ROS damage, and G6PD helps protect them from destruction.

What causes G6PD deficiency?

• G6PD is a genetic condition that is present from birth. 

• There is a gene Gd that codes for this enzyme. 

• Studies suggest that the deficiency of G6PD is due to the mutations (changes in the gene) that are responsible for the production of G6PD. This change can lead to either:

• Reduced activity of the enzyme

• Reduce the amount of the enzyme.

Risk Factors For G6PD Deficiency

The most common risk factors include:

1. Ingestion of fava beans

These beans contain oxidizing agents that cause severe oxidative stress in G6PD-deficient individuals, leading to massive hemolysis.

Interesting fact!

Even newborn babies can develop favism through exposure to fava beans by breast milk. Such babies can develop neonatal jaundice if they are inherently G6PD deficient. 

Here are 7 things that you must be aware of about breastfeeding.
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2. Exposure to certain medications

The medications that should be cautiously used for G6PD deficiency include:

• NSAIDs: Paracetamol and aspirin

• Antimalarial: Chloroquine and primaquine

• Antigout: Colchicine

• Antihistamine: Diphenhydramine and tripelennamine

• Antituberculosis: Isoniazid

• Antibiotics: Chloramphenicol, nitrofurantoin, trimethoprim, streptomycin, sulfacetamide, sulfanilamide, sulfapyridine, sulfacytine, sulfadiazine, sulfaguanidine, sulfamethoxazole, and sulfisoxazole

• Antidiabetics: Glyburide

• Vitamin K 

3. Ethnicity

Certain racial groups are more prone to G6PD deficiency, they include:

• Africans

• Middle East

• Certain parts of the Mediterranean

• Certain areas in Asia. 

4. Infection

Certain bacterial or viral infections make the person more prone to hemolytic anemia in G6PD-deficient individuals. Infections that can trigger symptoms include:

• Pneumonia

• Brucellosis

• Rickettsiosis

• Teeth infection 

• Hepatitis

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Diagnosis Of G6PD Deficiency

The following diagnostic approaches are used to confirm hemolysis and G6PD deficiency:

Physical examination 

• The first approach is looking for signs and symptoms such as the color of the skin. 

• This is usually done in newborns to look for signs of jaundice. 

Medical history

The knowledge of detailed medical history plays a very important role in diagnosing hemolysis and other outcomes as a result of G6PD deficiency. The clinician enquires about:

• Family history of G6PD deficiency

• Ethnicity

• Medications taken by the person

• Previous or recent infection

• Recent consumption of fava beans

Fluorescent spot test (FST)

• It is a first-line diagnostic tool that is used to detect G6PD deficiency in suspected individuals. 

• The test involves placing a small amount of blood with glucose-6-phosphate and a substrate reagent (a substance that reacts with an enzyme). 

• Once dried, the spots are viewed under long-wave ultraviolet (UV) light. 

Blood tests

The breakdown of red blood cells will lead to the release of several substances in the blood. This can be confirmed by following blood tests:

• Complete blood count (CBC): It helps detect G6PD deficiency by identifying signs of hemolysis, such as low red blood cell count, and hemoglobin levels.

• Total serum bilirubin: It helps detect G6PD deficiency by indicating elevated levels due to increased red blood cell breakdown (hemolysis).

• Reticulocyte count: It helps detect G6PD deficiency by showing elevated levels as the body produces more immature red blood cells to compensate for hemolysis.

• SGOT (Serum Glutamic-Oxaloacetic Transaminase): Also known as AST (Aspartate Aminotransferase), is an enzyme found in the liver, heart, and muscles. It helps assess liver or muscle damage, which can indicate complications during severe hemolysis in G6PD deficiency.

• Lactate dehydrogenase: It helps in G6PD deficiency diagnosis by indicating increased levels due to red blood cell destruction during hemolysis.

• Serum haptoglobin level:  These levels decrease in G6PD deficiency due to binding with free hemoglobin released during red blood cell destruction, helping assess hemolysis severity.

• Peripheral blood smear: It is done in G6PD deficiency to visually detect abnormal red blood cells, such as bite cells or Heinz bodies, indicating hemolysis.

Urine test

• It involves examination of urine to look for signs of hemolysis such as the presence of blood in the urine detecting hemosiderin (a form of storage iron derived from the breakdown of red blood cells).

Abdominal ultrasound 

• It is useful in detecting splenomegaly (enlargement of spleen) and gallstones. 

• These complications are typically limited to patients with severe chronic hemolysis.

Spectrophotometric analysis

• This involves measuring the activity of enzymes by using hemolysate in the blood

             (resulting product from the lysis of RBCs). 

• The blood sample is exposed to UV light and the absorbance is measured.

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Prevention Of G6PD Deficiency

• G6PD deficiency can not be prevented as it is a congenital manifestation (present at birth). 

• However, acute hemolytic anemia, the major clinical outcome of this deficiency can be largely prevented by avoiding exposure to fava beans and medications discussed in the “risk factors” section. 

Specialist To Visit

The doctors that help in diagnosing and managing G6PD deficiency and its outcomes are:

• Geneticist

• Gastroenterologist

• Hematologist

• Pediatrician

A geneticist helps in diagnosing G6PD deficiency as it is a genetic disease. 

A gastroenterologist helps in managing the symptoms associated with high levels of bilirubin as they have expertise in diagnosing and treating gastrointestinal disorders

Hematologist is a specialist in managing blood disorders and helps in diagnosing and treating hemolytic anemia.

Since, G6PD is a congenital disease that is present from birth, pediatricians help in evaluating the condition in newborn and infants. 

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When to see a doctor?

Individuals with hemolytic anemia should immediately consult the doctor. The signs and symptoms of hemolytic anemia include:

• Jaundice

• Tiredness

• Back pain

• Pallor

• Dark urine

• Tachypnea (rapid breathing)

Treatment Of G6PD Deficiency

Most individuals don't need treatment for G6PD deficiency, but symptoms can be prevented by avoiding oxidative triggers like fava beans and certain medications. Symptomatic management includes:

Phototherapy

• It is recommended in infants with prolonged neonatal jaundice to prevent brain damage. This includes keeping the infant under fluorescent lamps. 

• It is a safe and effective method for decreasing or preventing the rise of serum unconjugated bilirubin levels. 

Fluid therapy

• It primarily focuses on maintaining hydration

• It is recommended in individuals having inadequate blood supply to organs as a result of severe hemolysis. 

• This helps in preventing hemodynamic shock (when the body doesn't get enough blood flow). 

Folic acid (Vitamin B9) supplements

• Individuals with chronic hemolysis or non-spherocytic anemia are recommended to take folic acid supplements. 

• This helps in compensating the lost blood since folic acid helps in the synthesis of blood. 

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Blood transfusion

• This procedure involves replacing the blood with fresh donor blood. It is needed in the following cases:

  • Infants having severe hemolytic anemia 

  • Individuals having pre-existing anemia

Vitamin C

• It is an antioxidant and is mostly used in drug-induced symptoms. 

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Home care For G6PD deficiency

Here are some home remedies that can help manage G6PD deficiency:

• Avoid trigger foods: Stay away from fava beans and products containing menthol or naphthalene, as they can trigger hemolysis.

• Stay hydrated: Drinking plenty of water helps your body flush toxins and maintain healthy red blood cells.

• Boost antioxidant intake: Include foods rich in antioxidants like berries, spinach, and citrus fruits to help protect red blood cells from oxidative stress.

• Eat iron-rich foods: Incorporate leafy greens, legumes, and lean meats to support healthy blood production and prevent anemia.
  
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• Rest and recover: Take adequate rest during illness or stress to reduce the strain on your red blood cells.

• Monitor infections: Infections can trigger hemolysis, so managing and treating them early is crucial for those with G6PD deficiency.

Complications Of G6PD Dficiency

In rare cases, individuals with G6PD deficiency can develop skin ulcers. G6PD deficiency has three main clinical manifestations when exposed to triggers:

• Hemolytic anemia

• Chronic spherocytic anemia

• Neonatal anemia

Complications of hemolytic and chronic spherocytic anemia 

• Thromboembolism (blood vessel by a clot that has travelled from another part of the body)

• Kidney failure

• Gallbladder stones (formation of hard, pebble-like pieces of material, usually made of    cholesterol or bilirubin in the gallbladder)

Complications of neonatal jaundice

• Severe untreated jaundice for a long time can cause kernicterus (brain damage due to high levels of bilirubin in the body). 

Living With G6PD Deficiency

G6PD deficiency can be managed with certain lifestyle changes like: 

Think before you eat

• Each person with this condition reacts differently to eating certain foods depending upon the level of enzyme activity.

• People with G6PD deficiency should avoid foods high in oxidative stress triggers, like fava beans, certain legumes, and products containing sulfites or artificial coloring.

Get enough sleep and rest

• The lack of blood supply to the tissues and organs leads to extreme fatigue and weakness. 

• So, it is advisable to take rest and get at least 7-8 hours of sleep.

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Avoid dyes

The exposure to some substances used in tattoos and labs can serve as a trigger for hemolytic anemia in persons with G6PD deficiency. These substances include:

• Henna

• Naphthalene

• Toluidine blue

Get immediate medical help

• Some people with G6PD deficiency may experience severe symptoms such as changes in body temperature, heart rate, skin color, and breathing. 

• This can be a case of hemolytic crisis which needs immediate medical attention. 

Recommendations for parents/caregivers

• Parents should alert their child’s school, friends, and others about the problematic foods

• Give a copy of the “G6PD avoid list” in their school bag when parents are away such as during school, camp, a friend’s house, sports game, etc.

• Seek immediate medical attention in case of symptoms of jaundice 

• Keep mothballs and medications out of reach of children