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, individuals with G6PD deficiency are at risk of the following conditions:

• Hemolytic anemia (destruction of red blood cells)
• Neonatal jaundice (yellowing of the skin and eyes due to the deposition of a pigment called bilirubin in newborns), usually appearing within 24 hours after birth
• Chronic spherocytic anemia (premature destruction of red blood cells)

The signs and symptoms of these conditions include:

• Dark colored urine
• Pale skin
• Lethargy
• Fever
• Weakness
• Dizziness
• Confusion
• Trouble with physical activity
• Enlarged spleen and liver
• Increased heart rate

Some individuals may experience right upper quadrant tenderness due to increased bilirubin (a pigment produced from the breakdown of red blood cells).

High levels of bilirubin can indicate several disorders, including jaundice, anemia, and liver disease. It is advisable to check your bilirubin level if you are experiencing the above symptoms.

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

G6PD stands for glucose-6-phosphate dehydrogenase, an enzyme found 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 deficiency 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 mutations (changes in the gene) that affect the production of G6PD. This change can lead to either:

• Reduced activity of the enzyme
• Reduced amount of the enzyme

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 via breast milk. Such babies can develop neonatal jaundice if they are inherently G6PD deficient.

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, including:
   • Africans
   • Middle East
   • Certain parts of the Mediterranean
   • Certain areas in Asia
4. Infection: Certain bacterial or viral infections increase the risk of hemolytic anemia in G6PD-deficient individuals. Infections that can trigger symptoms include:
   • Pneumonia
   • Brucellosis
   • Rickettsiosis
   • Teeth infection
   • Hepatitis

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

Physical Examination

The first approach is to look for signs and symptoms, such as skin color. This is usually performed in newborns to check for signs of jaundice.

Medical History

The detailed medical history plays a crucial role in diagnosing hemolysis and other outcomes resulting from G6PD deficiency. The clinician inquires about:

• Family history of G6PD deficiency
• Ethnicity
• Medications taken by the individual
• Previous or recent infections
• Recent consumption of fava beans

Fluorescent Spot Test (FST)

This is a first-line diagnostic tool 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. Once dried, the spots are viewed under long-wave ultraviolet (UV) light.

Blood Tests

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

• Complete Blood Count (CBC): Helps detect G6PD deficiency by identifying signs of hemolysis, such as low red blood cell count and hemoglobin levels.
• Total Serum Bilirubin: Indicates elevated levels due to increased red blood cell breakdown (hemolysis).
• Reticulocyte Count: Shows 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), helps assess liver or muscle damage, indicating complications during severe hemolysis in G6PD deficiency.
• Lactate Dehydrogenase: Indicates increased levels due to red blood cell destruction during hemolysis.
• Serum Haptoglobin Level: Levels decrease in G6PD deficiency due to binding with free hemoglobin released during red blood cell destruction, helping assess hemolysis severity.
• Peripheral Blood Smear: Visually detects abnormal red blood cells, such as bite cells or Heinz bodies, indicating hemolysis.

Urine Test

This involves examining urine for signs of hemolysis, such as the presence of blood or hemosiderin (a form of storage iron derived from the breakdown of red blood cells).

Abdominal Ultrasound

This is useful in detecting splenomegaly (enlargement of the spleen) and gallstones. These complications are typically limited to patients with severe chronic hemolysis.

Spectrophotometric Analysis

This involves measuring the activity of enzymes using hemolysate in the blood (the resulting product from the lysis of RBCs). The blood sample is exposed to UV light, and the absorbance is measured.

G6PD deficiency cannot 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
• Steering clear of medications discussed in the “risk factors” section

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
  • Recommended in infants with prolonged neonatal jaundice to prevent brain damage. This includes keeping the infant under fluorescent lamps.
  • A safe and effective method for decreasing or preventing the rise of serum unconjugated bilirubin levels.
• Fluid therapy
  • Mainly focuses on maintaining hydration.
  • Recommended for individuals with inadequate blood supply to organs due to severe hemolysis.
  • Helps in preventing hemodynamic shock when the body doesn't receive enough blood flow.
• Folic acid (Vitamin B9) supplements
  • Recommended for individuals with chronic hemolysis or non-spherocytic anemia.
  • Helps compensate for lost blood since folic acid is essential for blood synthesis.
• Blood transfusion
  • This procedure involves replacing blood with fresh donor blood and is needed in the following cases:
    • Infants with severe hemolytic anemia.
    • Individuals with pre-existing anemia.
• Vitamin C
  • An antioxidant primarily used for drug-induced symptoms.

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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. Do not let anemia slow you down. Know more about the signs so that you can manage the condition proactively.
• 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.

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 include:

• Thromboembolism (blood vessel occlusion by a clot that has traveled 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 include:

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

G6PD deficiency can be managed with certain lifestyle changes like:

• Think before you eat
  Each person with this condition reacts differently to certain foods depending on the level of enzyme activity. People with G6PD deficiency should avoid foods high in oxidative stress triggers, such as 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 can lead to extreme fatigue and weakness. It is advisable to rest and get at least 7-8 hours of sleep. Try to ensure good-quality sleep.
• Avoid dyes
  Exposure to certain substances used in tattoos and labs can trigger hemolytic anemia in individuals with G6PD deficiency. These substances include:
  • Henna
  • Naphthalene
  • Toluidine blue
• Get immediate medical help
  Some individuals with G6PD deficiency may experience severe symptoms such as changes in body temperature, heart rate, skin color, and breathing. This can indicate a hemolytic crisis, which requires immediate medical attention.
• Recommendations for parents/caregivers
  Parents should inform their child’s school, friends, and others about problematic foods. Provide a copy of the “G6PD avoid list” in their school bag for times when parents are away, such as during school, camp, at a friend’s house, or sports games. Seek immediate medical attention in case of symptoms of jaundice. Keep mothballs and medications out of reach of children.