WHAT IS G6PD?

ASSIGNMENT

SUBMITTED BY
BASIT ALI
FA22-PHM-047
❖ What is G6PD?
G6PD stands for Glucose-6-Phosphate Dehydrogenase, which is an enzyme found in the
cells of the body. This enzyme plays a crucial role in protecting red blood cells from
damage and destruction caused by certain chemicals and oxidative stress.

❖ imPortance of G6PD:

▪ Functions: G6PD is involved in a metabolic pathway called the pentose phosphate pathway.
Its primary function is to convert glucose-6-phosphate into 6-phosphogluconolactone while
generating nicotinamide adenine dinucleotide phosphate (NADPH) in the process. NADPH is
essential for various cellular processes, including protecting cells from oxidative damage.

▪ Protection Against Oxidative Stress: NADPH produced by G6PD is critical for maintaining the
reduced form of glutathione, an important antioxidant in the body. This reduced glutathione
helps neutralize harmful reactive oxygen species (ROS) and protects cells from oxidative stress.

▪ Red Blood Cell Health: G6PD is particularly important for the health and survival of red blood
cells. Red blood cells are susceptible to damage from oxidative stress, and G6PD helps defend
them against this damage. When G6PD activity is compromised, red blood cells can become
fragile and break apart, leading to a condition called hemolysis.

▪ G6PD Deficiency: G6PD deficiency is a genetic condition in which the body doesn't produce
enough G6PD enzyme or produces a faulty version of it. This deficiency can result in hemolytic
anemia, a condition characterized by the premature destruction of red blood cells. G6PD
deficiencies can be triggered by certain drugs, infections, or dietary factors and individuals
with this deficiency may experience symptoms like jaundice, fatigue, and dark urine when
exposed to these triggers.

▪ Prevalence: G6PD deficiency is more common in certain populations, particularly in areas

where malaria is or was prevalent. This is because G6PD deficiency can provide some
protection against malaria, as the parasite responsible for the disease is vulnerable to
oxidative stress, and G6PD deficiency creates a hostile environment for the parasite within red
blood cells.

▪ Diagnosis and Management: G6PD deficiency can be diagnosed through blood tests.
Individuals with this deficiency are advised to avoid certain drugs, foods, and chemicals that
can trigger hemolysis. Management typically involves avoiding known triggers and taking
precautions to prevent hemolysis. It's important to note that G6PD deficiency is a genetic
condition, and individuals with this deficiency should consult with healthcare professionals for
guidance on managing their condition and avoiding triggers that can lead to complications.
 conDition Due to absence of G6PD:

▪ Hemolytic Anemia: G6PD deficiency is most associated with hemolytic anemia. In this
condition, red blood cells break down prematurely, leading to a shortage of red blood cells in
the bloodstream. This can result in symptoms such as fatigue, paleness, jaundice (yellowing
of the skin and eyes), dark urine, and an enlarged spleen.

▪ Hemolytic Crisis: G6PD deficiency can lead to acute episodes of hemolysis (breakdown of red
blood cells) called hemolytic crises. These crises can be triggered by various factors, including
certain foods, medications, infections, and exposure to oxidative stressors like fava beans or
naphthalene (found in mothballs). During a hemolytic crisis, a person with G6PD deficiency
may experience severe anemia and its associated symptoms.

▪ Neonatal Jaundice: G6PD deficiency can present as neonatal jaundice in newborns. This
occurs when the baby's red blood cells break down more rapidly than their liver can process
bilirubin, leading to an accumulation of bilirubin in the blood and resulting in yellowing of the
skin and eyes.

▪ Potential Complications: In severe cases of G6PD deficiency, individuals may be at risk of more
serious complications, such as acute kidney injury, acute respiratory distress syndrome, or
shock, especially if they are exposed to a significant trigger for hemolysis. It's important to
note that the severity of G6PD deficiency can vary widely among individuals, depending on
the specific genetic mutation they carry. Some individuals with G6PD deficiency may
experience only mild symptoms or no symptoms at all, while others may have more severe
reactions to triggers.

The primary approach to managing G6PD deficiency is to avoid known triggers that can lead to
hemolysis. This includes avoiding certain medications, foods, and substances that can cause
oxidative stress and trigger red blood cell breakdown.

❖ DruGs shoulDn’t useD in G6PD Deficiency synDrome:

▪ Antimalarial Drugs: Some antimalarial medications, such as primaquine and chloroquine,

can trigger hemolysis in individuals with G6PD deficiency. However, these drugs are
sometimes used in specific situations under close medical supervision, especially if the
benefits outweigh the risks.

▪ Sulfonamides: Sulfonamide antibiotics, including sulfamethoxazole and sulfadiazine, can

increase the risk of hemolysis in individuals with G6PD deficiency.

▪ Antipyretic Drugs: Acetaminophen (paracetamol) has been associated with hemolysis in

some individuals with G6PD deficiency, although this risk is generally considered low.
Nonetheless, caution is advised, and individuals with G6PD deficiency should use
acetaminophen sparingly and under medical guidance.
 ▪ NSAIDs (Nonsteroidal Anti-Inflammatory Drugs): Some NSAIDs, such as ibuprofen and
naproxen, have been associated with an increased risk of hemolysis in people with G6PD
deficiency. Safer pain management alternatives should be considered.

▪ Quinolone Antibiotics: Certain quinolone antibiotics, like ciprofloxacin, have the

potential to cause hemolysis in individuals with G6PD deficiency. Alternatives should be
considered when possible.

▪ Nitrofurantoin: This antibiotic used to treat urinary tract infections has been associated
with hemolysis in some cases of G6PD deficiency. 7. Dapsone: Dapsone is an antibiotic
used to treat various conditions, including leprosy and dermatitis herpetiformis. It can
cause significant hemolysis in individuals with G6PD deficiency.

❖ manaGinG G6PD Deficiency incluDes:

▪ Avoiding Triggers: Individuals with G6PD deficiency should avoid certain medications,
foods, and substances that can trigger hemolysis. These triggers include specific drugs,
such as some antimalarials, sulfonamide antibiotics, and others, as mentioned in the
previous response. Additionally, individuals should avoid exposure to oxidative stressors
like naphthalene (found in mothballs) and certain infections.

▪ Dietary Considerations: While there is no specific dietary treatment for G6PD deficiency,
some individuals find it helpful to avoid fava beans (broad beans) and other legumes, as
they can sometimes trigger hemolysis. Maintaining a well-balanced diet and staying
hydrated can also supports overall health.

▪ Medical Monitoring: Individuals with G6PD deficiency should receive regular medical
check-ups to monitor their blood counts and overall health. This can help detect and
manage any complications, such as anemia or jaundice, that may arise.

▪ Treatment of Complications: If complications like hemolytic anemia occur, they can be

managed medically. Treatment may include blood transfusions in severe cases or
addressing the underlying cause of the complication.

▪ Education and Awareness: Individuals with G6PD deficiency and their healthcare
providers should work together to develop a personalized management plan. It's essential
for individuals to be aware of their condition and understand how to avoid triggers and
manage potential complications.

❖ references:
✓ Thomson Gale's Gale Encyclopedia of Genetic Disorders" by Lawrence W. Baker (Editor)
✓ Everything You Need to Know" by Howard J. Mason
✓ "Genetics in Medicine" by James S. Thompson, Robert L. Nussbaum, and Roderick R.
McInnes
✓ Basic Principles and Practice" by Ronald Hoffman, Edward J. Benz Jr., et al.
-------------------------------------------------------------------