What is G6PD Deficiency?
🔹Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an inherited enzymatic disorder where red blood cells (RBCs) lack sufficient G6PD, an enzyme crucial for maintaining their structural integrity.
🔹Without enough G6PD, RBCs are more prone to damage and premature destruction, leading to hemolysis (RBC breakdown).
Why is G6PD Important?
* The enzyme acts as a shield, protecting red blood cells from oxidative damage caused by free radicals, infections, or certain substances. When this shield is absent or deficient, the RBCs can rupture, leading to hemolytic anemia.
Symptoms to Watch For Symptoms often appear after exposure to triggers and may include:
– Fatigue and weakness
– Pale or yellowish skin (jaundice)
– Dark-colored urine
Who is at Risk?
🌍G6PD deficiency is common in regions where malaria is or was historically prevalent, as the deficiency offers some protection against malaria.
– Prevalence: Most common in people of African, Mediterranean, Middle Eastern, and Southeast Asian descent.
-Inheritance: It is an X-linked recessive disorder, meaning:
-Males are more commonly affected.
-Females are carriers but can also exhibit symptoms in rare cases.
Triggers for Hemolysis Certain substances and conditions can exacerbate oxidative stress, leading to hemolysis:
1. Medications:
– Antimalarials (e.g., Primaquine)
Sulfonamides
– Nitrofurantoin
– Aspirin (in high doses)
2. Foods:
– Fava beans (favism)
3. Infections:
– Viral or bacterial infections can increase oxidative stress.
4. Other Factors:
– Exposure to naphthalene (found in mothballs).
Diagnosis in the Laboratory Diagnosing G6PD deficiency involves:
1. G6PD Enzyme Assay:
– Measures the activity of the G6PD enzyme.
2. Peripheral Blood Smear:
– May reveal fragmented or damaged RBCs (e.g., bite cells, Heinz bodies).
3. Complete Blood Count (CBC):
– Identifies anemia and other hematological abnormalities.
4. Molecular Testing:
– Detects genetic mutations in the G6PD gene for confirmation.
Why Should We Care?
♦️As medical professionals, we are pivotal in raising awareness, diagnosing, and guiding patients on proper management.
Together, we can reduce preventable deaths and improve quality of life for those living with G6PD deficiency.
