G6PDD is an inherited genetic disorder in the red blood cell enzyme known as G6PD. The effects of this disease are preventable by avoiding the triggers.
3. Introduction
• Glucose-6-phosphate dehydrogenase (G6PD) Deficiency {G6PDD}
• G6PDD is an inherited disorder caused by a genetic defect in the red
blood cell (RBC) enzyme G6PD, which generates NADPH and protects
RBCs from oxidative injury.
• G6PDD is characterized by haemolytic anaemia caused by inability to
detoxify oxidized agents
• Inborn error of metabolism
• X-linked Recessive inheritance
4.
5.
6. History
• In 20th century, Favism was observed
• In 1956 – haemolytic anaemia developed in patients triggered by
antimalarial drug primaquine with very low amounts of G6PD activity
in their red blood cells (similar to that seen in fava beans ingestion or
inhalation of the plant’s pollen)
7. Epidemiology
• Most common enzymatic deficiency of RBCs
• Most common in males
• 7.5% of the world population deficient (400 million)
• 1 in 10 African American Males in US
• 35% prevalence in some areas in Africa
• Protective against malaria
• May cause : Haemolytic anaemia
• Neonatal Hyperbilirubinaemia
8.
9. Risk Factors
• Male sex
• Race
• Family History
• Consumption of substances the cause oxidative stress
10. Pathophysiology
• Pentose Phosphate Pathway
Affectation
• NADPH is necessary to prevent
RBC damage from Reactive
Oxygen Species (ROS)
• i.e. Dec NADPH -----INC. ROS
11.
12. Classification
• Severity: Class I V
• Class 1 – ˂ 1% of normal, chronic
• Class II- ˂ 10% of normal, intermittent
G6PD Mediterranean (Severe, Caucasians)
• Class III– 10-60% Normal, intermittent
• G6PD A- (RBCs starts with normal G6PD activity but declines with
Age. Most common in Africa)
• Class IV – Wild-type
• G6PD B
• Class V- 2x normal activity
26. Prognosis
• Most individuals with G6PD deficiency do not require any treatment.
• G6PD-deficient individuals do not appear to acquire any illnesses
more frequently than other people, and may have less risk than other
people for acquiring ischaemic heart disease and cerebrovascular
disease.
27. Conclusion
• G6PDD
• Acute haemolytic anaemia in G6PD-deficient patients is largely
preventable by avoiding exposure to fava beans, drugs, and chemicals
that can cause oxidant stress.
• Identification and discontinuation of the precipitating agent is critical
in management of haemolysis in patients with G6PD deficiency
• Proper preventive and treatment methods can avoid negative effects
of G6PDD on the quality of life and reduce morbidity and mortality,
therefore the care takers and patients must be well informed.
28. References
• Frank. J.E. (2005) Diagnosis and management of G6PD
deficiency.PubMed.gov. https://www.ncbi.nlm.nih.gov/pubmed/16225031
• Glader. B. (2018). Diagnosis and Management of Glucose-6-phosphate
dehydrogenase (G6PD) deficiency.
https://www.uptodate.com/contents/diagnosis-and-management-of-
glucose-6-phosphate-dehydrogenase-g6pd-deficiency
• https://www.researchgate.net/figure/Appearance-of-assay-plate-wells-for-
testing-of-G6PD-activity-from-dried-blood-spots-The_fig1_45504199
• Muzaffa. I.H. et al (2018) An Overview of the Most Common Enzyme Defect,
Glucose-6-Phosphate-Dehydrogenase Deficiency. The Egyptian Journal of
Hospital Medicine. 70. 102-108. http://egyptianjournal.xyz/701_18.pdf
• Nelson Textbook of Pediatrics, 20th Edition, Volume 2
• Wolfe L.C.(2018) G6PD Deficiency Treatment & Management. Medscape.
https://emedicine.medscape.com/article/119184-treatment