เลือกหัวข้อที่อ่าน

• What are the causes of G6PD?
• Why G6PD deficiency is more prevalent in men?
• What are the symptoms of G6PD?
• How is G6PD diagnosed?
• How is G6PD treated?

G6PD Deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder in which the body has low levels of G6PD, an enzyme that protects red blood cells from harmful free radicals. The condition is more common in men, particularly those with African, South American, Middle Eastern, Mediterranean, or Asian ancestry.

People with G6PD deficiency risk red blood cell damage, hemolysis, and anemia when consuming specific foods or medications or when exposed to certain chemicals.

What are the causes of G6PD?

The mutation of the G6PD gene prevents the body from producing adequate functional G6PD enzyme, which protects red blood cells from oxidative stress and premature destruction. The deficiency of the G6PD enzyme results in insufficient generation of NADPH (nicotinamide adenine dinucleotide phosphate), essential for replenishing the primary cellular antioxidant glutathione.

When the G6PD enzyme activity is too low, it cannot replenish the antioxidant glutathione within the red blood cells. The red blood cell membrane exposed to the harmful byproducts of oxygen metabolism, the free radicals, will break down. Other triggers include certain foods, medications, and infections that escalate red blood cell damage. All of these triggers can cause the breakdown of red blood cells. Anemia ensues when the bone marrow fails to produce enough healthy red blood cells to compensate for the damaged ones.

Why G6PD deficiency is more prevalent in men?

• G6PD deficiency is more common in men because the G6PD gene is on the X chromosome. The phenotypic expression of a mutated G6PD gene is a certainty because men have only one X chromosome. Since women have two X chromosomes, they will not develop G6PD deficiency if the other copy of the G6PD gene on the other X chromosome is a normal gene.

Triggers of hemolysis and other conditions related to G6PD deficiency

• Fava beans are the most common triggers, followed by peas, peanuts, legumes, soybeans, and processed foods containing artificial colorings.
• Infections, e.g., pneumonia, typhoid fever, hepatitis A and B
• Certain drugs such as aspirin, primaquine, antibiotics (nitrofurantoin, dapsone, and sulfa drugs)
• Emotional stress.
• Certain chemicals, such as those in mothballs

What are the symptoms of G6PD?

• Anemia or acute hemolytic anemia in severe cases.
• Pallor.
• Jaundice.
• Dark urine.
• Fatigue.
• Shortness of breath.
• A rapid heartbeat.
• An enlarged spleen.

If you have a hemolytic crisis, you will have the following symptoms which develop acutely.

• Sudden body temperature rise.
• Yellow or pale skin.
• Dark yellow/orange or black urine resembling fish sauce or Coca-Cola color.
• Thready pulses, labored and fast breathing.

Newborns with G6PD deficiency may develop severe jaundice within the first 24 hours with bilirubin over 95 percentile levels. The condition can cause brain damage if left untreated.

People with G6PD may have varying symptoms. If you are diagnosed with G6PD deficiency, consult your doctor on how to prevent triggering severe G6PD deficiency symptoms.

When to see a doctor

Always see your doctor if you have G6PD deficiency symptoms. If the symptoms are severe, seek immediate medical care.

How is G6PD diagnosed?

• Medical history
  • Your doctor will ask if you have had an infection or recent medication changes.
• Laboratory investigations
  • Complete blood count (CBC).
  • Bilirubin levels.
  • Reticulocyte count.
  • Serum aminotransferases to check an enzyme in your liver.
  • Blood smear to check the changes in the number, type, shape, and size of blood cells.
  • Lactate dehydrogenase (LDH) for signs of increased red blood cell hemolysis.

How is G6PD treated?

Types of treatment depend on your symptoms.

Doctors treat neonatal jaundice with phototherapy. In severe cases, blood transfusion may be necessary. In adult G6PD with mild jaundice, they should refrain from eating certain foods or other triggers.

Severe hemolytic anemia may require blood transfusions.

How to prevent from G6PD?

• Since G6PD deficiency is a heredity condition, it is not curable. People who have a first-degree relative with G6PD deficiency should have a G6PD screening test.
• Though G6PD deficiency is not curable, you can avoid certain foods and medications to prevent triggering G6PD deficiency symptoms.
• Avoid excessive alcohol consumption because it can increase oxidative stress, which can lead to hemolytic anemia.
• Quit smoking because tobacco products can weaken your immunity and increase free radicals in the body.
• Do not over-exercise, as it increases oxidative stress.
• Cope or manage your stress or anxiety, which can be a trigger of G6PD deficiency symptoms.
• Get adequate sleep to boost your immune system for fending off infections that can trigger G6PD deficiency symptoms.