SlideShare a Scribd company logo
Glucose-6-phosphate
dehydrogenase deficiency
By
Dr. Afuye {MB;BS Ilorin}
Federal Medical Centre, Owo.
Outline
• Introduction
• History
• Epidemiology
• Risk Factors
• Pathophysiology
• Aetiology
• Signs and symptoms
• Management
• Prognosis
• Conclusion
• References
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
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)
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
Risk Factors
• Male sex
• Race
• Family History
• Consumption of substances the cause oxidative stress
Pathophysiology
• Pentose Phosphate Pathway
Affectation
• NADPH is necessary to prevent
RBC damage from Reactive
Oxygen Species (ROS)
• i.e. Dec NADPH -----INC. ROS
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
Aetiology
Medications
Food substances
Chemical
Management
PRESENTATION:
• Majorly Asymptomatic
• Chronic Haemolytic Anaemia
Very rare
• Acute Haemolytic Anaemia: Triggers
History/Signs and symptoms
• Asymptomatic
• Pallor
• Jaundice
• Dark urine (haemoglobinuria)
• Fatigue/weakness
• Shortness of breath
• Tachycardia
• Fever
• Dizziness
• Splenomegaly
• At-risk demography
• Family History
• Drug History
• Dietary History
• History of infection
Lab findings
• FBC:
• Peripheral smear: Anaemia: Normochromic Normocyctic
• Anisocytosis: RBC distribution width
• Poikilocytes
• Bite Cells
• Heinz Bodies
• Reticulocytes
LDH1
Haptoglobin
Carboxyhaemoglobin
• Urinalysis
• Serum bilirubin check
• Liver function test
• Coombs test
Diagnosis
• Screening Tests
• Beutler Fluorescent Spot Test:
NADPH Fluorescence
• Methylene blue Reduction Test
• Cresylblue dye descolorization
• Cytochemical staining
• Genetic testing for G6PD variants – DNA /PCR
Confirmation Tests:
• Definitive biochemical test is G6PD spectrophotometry
If positive:
• G6PD Activity
• NADPH generated
Treatment
• Avoid/Remove triggers
• Avoid unsafe meds
• Dietary Restrictions
• Hydration
• Blood transfusion
• Dialysis
• Folic Acid Supplementation:
• Chronic Haemolysis
• 1mg/day
• Splenectomy
• Vitamin E and selenium
Differential Diagnosis
• Sickle cell disease
• Autoimmune haemolytic anaemia
• Isoimmune haemolytic anaemia i.e. ABO incompatibility
• AGN Gilbert Syndrome
• Hemolytic Disease of the Newborn
• Hereditary Spherocytosis
• Methemoglobinemia
• Mismatched Blood Transfusion
• Paroxysmal Cold Hemoglobinuria
• Paroxysmal Noctunal Hemoglobinuria
• Pyruvate Kinase Deficiency
Prevention
• Primary
• Secondary
• Tertiary
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.
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.
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
THANK YOU

More Related Content

What's hot

G6PD deficiency.ppt
G6PD deficiency.pptG6PD deficiency.ppt
G6PD deficiency.ppt
AbdulKaderSouid
 
G6pd
G6pdG6pd
G6pd
S. Ismat
 
G6pd
G6pdG6pd
G6PD disease.pptx
G6PD disease.pptxG6PD disease.pptx
G6PD disease.pptx
sandeep singh
 
Khan arbaz ali
Khan arbaz aliKhan arbaz ali
Khan arbaz ali
khan ali
 
Megaloblastic Anemia
Megaloblastic AnemiaMegaloblastic Anemia
Megaloblastic Anemia
Nishkarsh Bansal
 
Hemoglobinopathies
HemoglobinopathiesHemoglobinopathies
Hemoglobinopathies
Ali Faris
 
Glucose 6-phosphate dehydrogenase deficiency
Glucose 6-phosphate dehydrogenase deficiencyGlucose 6-phosphate dehydrogenase deficiency
Glucose 6-phosphate dehydrogenase deficiencyFikri Abdullah Zawawi
 
practical points for G6PD Deficiency , Favism
practical points for G6PD Deficiency , Favismpractical points for G6PD Deficiency , Favism
practical points for G6PD Deficiency , Favism
Hussein Abdeldayem
 
Hemoglobinopathies
HemoglobinopathiesHemoglobinopathies
Hemoglobinopathies
Sandip Pandey
 
G6PD DEFICIENCY
G6PD DEFICIENCYG6PD DEFICIENCY
G6PD DEFICIENCY
Ma Wady
 
Sickle cell Anemia
Sickle cell AnemiaSickle cell Anemia
Sickle cell Anemia
Ashish Jawarkar
 
G6pd Asst Prof.Dr.Faiz Ahmed Faiz
G6pd Asst Prof.Dr.Faiz Ahmed FaizG6pd Asst Prof.Dr.Faiz Ahmed Faiz
G6pd Asst Prof.Dr.Faiz Ahmed Faiz
faizlab
 
Hemolytic anemia sandip
Hemolytic anemia sandipHemolytic anemia sandip
Hemolytic anemia sandip
Sandip Gupta
 
Hemolytic anemia
Hemolytic anemiaHemolytic anemia
Hemolytic anemiaRisho1012
 
Sickle cell disease
Sickle cell diseaseSickle cell disease
Sickle cell disease
Yara Mostafa
 
Metabolism of RBC and RBC Enzymopathies
Metabolism of RBC and RBC EnzymopathiesMetabolism of RBC and RBC Enzymopathies
Metabolism of RBC and RBC Enzymopathies
Pradeep Singh Narwat
 
Glycogen storage diseases priya kishnani
Glycogen storage diseases  priya kishnaniGlycogen storage diseases  priya kishnani
Glycogen storage diseases priya kishnani
Sanjeev Kumar
 
Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal HemoglobinuriaParoxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal HemoglobinuriaDebra G. Carnahan
 

What's hot (20)

G6PD deficiency.ppt
G6PD deficiency.pptG6PD deficiency.ppt
G6PD deficiency.ppt
 
G6pd
G6pdG6pd
G6pd
 
G6pd
G6pdG6pd
G6pd
 
G6PD disease.pptx
G6PD disease.pptxG6PD disease.pptx
G6PD disease.pptx
 
Khan arbaz ali
Khan arbaz aliKhan arbaz ali
Khan arbaz ali
 
Megaloblastic Anemia
Megaloblastic AnemiaMegaloblastic Anemia
Megaloblastic Anemia
 
G6pd
G6pdG6pd
G6pd
 
Hemoglobinopathies
HemoglobinopathiesHemoglobinopathies
Hemoglobinopathies
 
Glucose 6-phosphate dehydrogenase deficiency
Glucose 6-phosphate dehydrogenase deficiencyGlucose 6-phosphate dehydrogenase deficiency
Glucose 6-phosphate dehydrogenase deficiency
 
practical points for G6PD Deficiency , Favism
practical points for G6PD Deficiency , Favismpractical points for G6PD Deficiency , Favism
practical points for G6PD Deficiency , Favism
 
Hemoglobinopathies
HemoglobinopathiesHemoglobinopathies
Hemoglobinopathies
 
G6PD DEFICIENCY
G6PD DEFICIENCYG6PD DEFICIENCY
G6PD DEFICIENCY
 
Sickle cell Anemia
Sickle cell AnemiaSickle cell Anemia
Sickle cell Anemia
 
G6pd Asst Prof.Dr.Faiz Ahmed Faiz
G6pd Asst Prof.Dr.Faiz Ahmed FaizG6pd Asst Prof.Dr.Faiz Ahmed Faiz
G6pd Asst Prof.Dr.Faiz Ahmed Faiz
 
Hemolytic anemia sandip
Hemolytic anemia sandipHemolytic anemia sandip
Hemolytic anemia sandip
 
Hemolytic anemia
Hemolytic anemiaHemolytic anemia
Hemolytic anemia
 
Sickle cell disease
Sickle cell diseaseSickle cell disease
Sickle cell disease
 
Metabolism of RBC and RBC Enzymopathies
Metabolism of RBC and RBC EnzymopathiesMetabolism of RBC and RBC Enzymopathies
Metabolism of RBC and RBC Enzymopathies
 
Glycogen storage diseases priya kishnani
Glycogen storage diseases  priya kishnaniGlycogen storage diseases  priya kishnani
Glycogen storage diseases priya kishnani
 
Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal HemoglobinuriaParoxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria
 

Similar to Glucose 6-phosphate dehydrogenase deficiency

glucose-6-phosphatedehydrogenasedeficiency2-190629154837.pptx
glucose-6-phosphatedehydrogenasedeficiency2-190629154837.pptxglucose-6-phosphatedehydrogenasedeficiency2-190629154837.pptx
glucose-6-phosphatedehydrogenasedeficiency2-190629154837.pptx
KalyanAcharya10
 
Blood 111.pptx
Blood 111.pptxBlood 111.pptx
Blood 111.pptx
PariaMotahari1
 
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiency
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiencyHemolytic anemia, Hereditary spherocytosis and G6PD deficiency
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiencyThe Medical Post
 
Anaemia pathology ppt
Anaemia pathology pptAnaemia pathology ppt
Anaemia pathology ppt
Nicholaus Kapunga
 
NEONATAL G-6PD DEFICIENCY
NEONATAL G-6PD DEFICIENCYNEONATAL G-6PD DEFICIENCY
IEMs.pptx
IEMs.pptxIEMs.pptx
IEMs.pptx
adnanali979088
 
G6PD deficiency and malaria
G6PD deficiency and malariaG6PD deficiency and malaria
G6PD deficiency and malaria
Adeel Zafar
 
Hemolytic anemia in children
Hemolytic anemia in childrenHemolytic anemia in children
Hemolytic anemia in children
Imran Iqbal
 
glucose-6-phosphate dehydrogenase (G6PD) Deficiency.pptx
glucose-6-phosphate dehydrogenase (G6PD) Deficiency.pptxglucose-6-phosphate dehydrogenase (G6PD) Deficiency.pptx
glucose-6-phosphate dehydrogenase (G6PD) Deficiency.pptx
achujesenta
 
Approach to a case of anemia in childrens
Approach to a case of anemia in childrensApproach to a case of anemia in childrens
Approach to a case of anemia in childrens
Krishna Yadarala
 
Acute hemolytic anemia
Acute hemolytic anemiaAcute hemolytic anemia
Acute hemolytic anemia
MohamedEid822594
 
Hemolytic Anemia
Hemolytic Anemia Hemolytic Anemia
Hemolytic Anemia
Theekshana Wijesinghe
 
Hemolytic anemia
Hemolytic anemiaHemolytic anemia
Hemolytic anemia
DR. JITHIN GEORGE
 
Anemia in Child
Anemia in ChildAnemia in Child
Anemia in Child
ShaliniShal11
 
peripheral smear anemea clues.pdf
peripheral smear anemea clues.pdfperipheral smear anemea clues.pdf
peripheral smear anemea clues.pdf
DrMADHURI6
 
Rbc disorders-3
Rbc disorders-3Rbc disorders-3
Rbc disorders-3
Prasad CSBR
 
Anemia in elderly
Anemia in elderlyAnemia in elderly
Anemia in elderly
Chetan Ganteppanavar
 
2.P.vivax and G6PD_PAVE_25112022_PSI.pptx
2.P.vivax and G6PD_PAVE_25112022_PSI.pptx2.P.vivax and G6PD_PAVE_25112022_PSI.pptx
2.P.vivax and G6PD_PAVE_25112022_PSI.pptx
TunTunWin34
 
approach to a patient with anemia2019.pptx
approach to a patient with anemia2019.pptxapproach to a patient with anemia2019.pptx
approach to a patient with anemia2019.pptx
MutagubyaBrian
 

Similar to Glucose 6-phosphate dehydrogenase deficiency (20)

glucose-6-phosphatedehydrogenasedeficiency2-190629154837.pptx
glucose-6-phosphatedehydrogenasedeficiency2-190629154837.pptxglucose-6-phosphatedehydrogenasedeficiency2-190629154837.pptx
glucose-6-phosphatedehydrogenasedeficiency2-190629154837.pptx
 
Blood 111.pptx
Blood 111.pptxBlood 111.pptx
Blood 111.pptx
 
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiency
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiencyHemolytic anemia, Hereditary spherocytosis and G6PD deficiency
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiency
 
Anaemia pathology ppt
Anaemia pathology pptAnaemia pathology ppt
Anaemia pathology ppt
 
NEONATAL G-6PD DEFICIENCY
NEONATAL G-6PD DEFICIENCYNEONATAL G-6PD DEFICIENCY
NEONATAL G-6PD DEFICIENCY
 
Anemiainelderly
AnemiainelderlyAnemiainelderly
Anemiainelderly
 
IEMs.pptx
IEMs.pptxIEMs.pptx
IEMs.pptx
 
G6PD deficiency and malaria
G6PD deficiency and malariaG6PD deficiency and malaria
G6PD deficiency and malaria
 
Hemolytic anemia in children
Hemolytic anemia in childrenHemolytic anemia in children
Hemolytic anemia in children
 
glucose-6-phosphate dehydrogenase (G6PD) Deficiency.pptx
glucose-6-phosphate dehydrogenase (G6PD) Deficiency.pptxglucose-6-phosphate dehydrogenase (G6PD) Deficiency.pptx
glucose-6-phosphate dehydrogenase (G6PD) Deficiency.pptx
 
Approach to a case of anemia in childrens
Approach to a case of anemia in childrensApproach to a case of anemia in childrens
Approach to a case of anemia in childrens
 
Acute hemolytic anemia
Acute hemolytic anemiaAcute hemolytic anemia
Acute hemolytic anemia
 
Hemolytic Anemia
Hemolytic Anemia Hemolytic Anemia
Hemolytic Anemia
 
Hemolytic anemia
Hemolytic anemiaHemolytic anemia
Hemolytic anemia
 
Anemia in Child
Anemia in ChildAnemia in Child
Anemia in Child
 
peripheral smear anemea clues.pdf
peripheral smear anemea clues.pdfperipheral smear anemea clues.pdf
peripheral smear anemea clues.pdf
 
Rbc disorders-3
Rbc disorders-3Rbc disorders-3
Rbc disorders-3
 
Anemia in elderly
Anemia in elderlyAnemia in elderly
Anemia in elderly
 
2.P.vivax and G6PD_PAVE_25112022_PSI.pptx
2.P.vivax and G6PD_PAVE_25112022_PSI.pptx2.P.vivax and G6PD_PAVE_25112022_PSI.pptx
2.P.vivax and G6PD_PAVE_25112022_PSI.pptx
 
approach to a patient with anemia2019.pptx
approach to a patient with anemia2019.pptxapproach to a patient with anemia2019.pptx
approach to a patient with anemia2019.pptx
 

More from Alade Olubunmi

Lassa fever by Dr Afuye O.O.
Lassa fever by Dr Afuye O.O.Lassa fever by Dr Afuye O.O.
Lassa fever by Dr Afuye O.O.
Alade Olubunmi
 
Coronavirus by Dr Afuye O.O.
Coronavirus by Dr Afuye O.O.Coronavirus by Dr Afuye O.O.
Coronavirus by Dr Afuye O.O.
Alade Olubunmi
 
Tractions in orthopaedics by Dr O.O. Afuye
Tractions in orthopaedics by Dr O.O. AfuyeTractions in orthopaedics by Dr O.O. Afuye
Tractions in orthopaedics by Dr O.O. Afuye
Alade Olubunmi
 
Cast and immobilization techniques in orthopaedics by Dr O.O. Afuye
Cast and immobilization techniques in orthopaedics by Dr O.O. AfuyeCast and immobilization techniques in orthopaedics by Dr O.O. Afuye
Cast and immobilization techniques in orthopaedics by Dr O.O. Afuye
Alade Olubunmi
 
Antibiotic use in surgery
Antibiotic use in surgeryAntibiotic use in surgery
Antibiotic use in surgery
Alade Olubunmi
 
Obesity in pregnancy
Obesity in pregnancyObesity in pregnancy
Obesity in pregnancy
Alade Olubunmi
 
Neonatal tetanus by Dr Afuye Olubunmi Olusola
Neonatal tetanus by Dr Afuye Olubunmi OlusolaNeonatal tetanus by Dr Afuye Olubunmi Olusola
Neonatal tetanus by Dr Afuye Olubunmi Olusola
Alade Olubunmi
 
Hirchsprung’s disease by Dr Afuye Olubunmi Olusola
Hirchsprung’s disease by Dr Afuye Olubunmi OlusolaHirchsprung’s disease by Dr Afuye Olubunmi Olusola
Hirchsprung’s disease by Dr Afuye Olubunmi Olusola
Alade Olubunmi
 
Hippocratic oath
Hippocratic oathHippocratic oath
Hippocratic oath
Alade Olubunmi
 
Complications of thyroidectomy
Complications of thyroidectomyComplications of thyroidectomy
Complications of thyroidectomy
Alade Olubunmi
 
Cerebrospinal meningitis
Cerebrospinal meningitisCerebrospinal meningitis
Cerebrospinal meningitis
Alade Olubunmi
 

More from Alade Olubunmi (11)

Lassa fever by Dr Afuye O.O.
Lassa fever by Dr Afuye O.O.Lassa fever by Dr Afuye O.O.
Lassa fever by Dr Afuye O.O.
 
Coronavirus by Dr Afuye O.O.
Coronavirus by Dr Afuye O.O.Coronavirus by Dr Afuye O.O.
Coronavirus by Dr Afuye O.O.
 
Tractions in orthopaedics by Dr O.O. Afuye
Tractions in orthopaedics by Dr O.O. AfuyeTractions in orthopaedics by Dr O.O. Afuye
Tractions in orthopaedics by Dr O.O. Afuye
 
Cast and immobilization techniques in orthopaedics by Dr O.O. Afuye
Cast and immobilization techniques in orthopaedics by Dr O.O. AfuyeCast and immobilization techniques in orthopaedics by Dr O.O. Afuye
Cast and immobilization techniques in orthopaedics by Dr O.O. Afuye
 
Antibiotic use in surgery
Antibiotic use in surgeryAntibiotic use in surgery
Antibiotic use in surgery
 
Obesity in pregnancy
Obesity in pregnancyObesity in pregnancy
Obesity in pregnancy
 
Neonatal tetanus by Dr Afuye Olubunmi Olusola
Neonatal tetanus by Dr Afuye Olubunmi OlusolaNeonatal tetanus by Dr Afuye Olubunmi Olusola
Neonatal tetanus by Dr Afuye Olubunmi Olusola
 
Hirchsprung’s disease by Dr Afuye Olubunmi Olusola
Hirchsprung’s disease by Dr Afuye Olubunmi OlusolaHirchsprung’s disease by Dr Afuye Olubunmi Olusola
Hirchsprung’s disease by Dr Afuye Olubunmi Olusola
 
Hippocratic oath
Hippocratic oathHippocratic oath
Hippocratic oath
 
Complications of thyroidectomy
Complications of thyroidectomyComplications of thyroidectomy
Complications of thyroidectomy
 
Cerebrospinal meningitis
Cerebrospinal meningitisCerebrospinal meningitis
Cerebrospinal meningitis
 

Recently uploaded

Are There Any Natural Remedies To Treat Syphilis.pdf
Are There Any Natural Remedies To Treat Syphilis.pdfAre There Any Natural Remedies To Treat Syphilis.pdf
Are There Any Natural Remedies To Treat Syphilis.pdf
Little Cross Family Clinic
 
Physiology of Chemical Sensation of smell.pdf
Physiology of Chemical Sensation of smell.pdfPhysiology of Chemical Sensation of smell.pdf
Physiology of Chemical Sensation of smell.pdf
MedicoseAcademics
 
ANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptx
ANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptxANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptx
ANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptx
Swetaba Besh
 
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journey
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness JourneyTom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journey
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journey
greendigital
 
Non-respiratory Functions of the Lungs.pdf
Non-respiratory Functions of the Lungs.pdfNon-respiratory Functions of the Lungs.pdf
Non-respiratory Functions of the Lungs.pdf
MedicoseAcademics
 
The POPPY STUDY (Preconception to post-partum cardiovascular function in prim...
The POPPY STUDY (Preconception to post-partum cardiovascular function in prim...The POPPY STUDY (Preconception to post-partum cardiovascular function in prim...
The POPPY STUDY (Preconception to post-partum cardiovascular function in prim...
Catherine Liao
 
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...
VarunMahajani
 
Charaka Samhita Sutra sthana Chapter 15 Upakalpaniyaadhyaya
Charaka Samhita Sutra sthana Chapter 15 UpakalpaniyaadhyayaCharaka Samhita Sutra sthana Chapter 15 Upakalpaniyaadhyaya
Charaka Samhita Sutra sthana Chapter 15 Upakalpaniyaadhyaya
Dr KHALID B.M
 
Surat @ℂall @Girls ꧁❤8527049040❤꧂@ℂall @Girls Service Vip Top Model Safe
Surat @ℂall @Girls ꧁❤8527049040❤꧂@ℂall @Girls Service Vip Top Model SafeSurat @ℂall @Girls ꧁❤8527049040❤꧂@ℂall @Girls Service Vip Top Model Safe
Surat @ℂall @Girls ꧁❤8527049040❤꧂@ℂall @Girls Service Vip Top Model Safe
Savita Shen $i11
 
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists  Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists
Saeid Safari
 
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdf
ARTIFICIAL INTELLIGENCE IN  HEALTHCARE.pdfARTIFICIAL INTELLIGENCE IN  HEALTHCARE.pdf
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdf
Anujkumaranit
 
Phone Us ❤85270-49040❤ #ℂall #gIRLS In Surat By Surat @ℂall @Girls Hotel With...
Phone Us ❤85270-49040❤ #ℂall #gIRLS In Surat By Surat @ℂall @Girls Hotel With...Phone Us ❤85270-49040❤ #ℂall #gIRLS In Surat By Surat @ℂall @Girls Hotel With...
Phone Us ❤85270-49040❤ #ℂall #gIRLS In Surat By Surat @ℂall @Girls Hotel With...
Savita Shen $i11
 
THOA 2.ppt Human Organ Transplantation Act
THOA 2.ppt Human Organ Transplantation ActTHOA 2.ppt Human Organ Transplantation Act
THOA 2.ppt Human Organ Transplantation Act
DrSathishMS1
 
heat stroke and heat exhaustion in children
heat stroke and heat exhaustion in childrenheat stroke and heat exhaustion in children
heat stroke and heat exhaustion in children
SumeraAhmad5
 
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stock
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in StockFactory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stock
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stock
rebeccabio
 
Ocular injury ppt Upendra pal optometrist upums saifai etawah
Ocular injury  ppt  Upendra pal  optometrist upums saifai etawahOcular injury  ppt  Upendra pal  optometrist upums saifai etawah
Ocular injury ppt Upendra pal optometrist upums saifai etawah
pal078100
 
Hemodialysis: Chapter 3, Dialysis Water Unit - Dr.Gawad
Hemodialysis: Chapter 3, Dialysis Water Unit - Dr.GawadHemodialysis: Chapter 3, Dialysis Water Unit - Dr.Gawad
Hemodialysis: Chapter 3, Dialysis Water Unit - Dr.Gawad
NephroTube - Dr.Gawad
 
For Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #Girls
For Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #GirlsFor Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #Girls
For Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #Girls
Savita Shen $i11
 
Flu Vaccine Alert in Bangalore Karnataka
Flu Vaccine Alert in Bangalore KarnatakaFlu Vaccine Alert in Bangalore Karnataka
Flu Vaccine Alert in Bangalore Karnataka
addon Scans
 
basicmodesofventilation2022-220313203758.pdf
basicmodesofventilation2022-220313203758.pdfbasicmodesofventilation2022-220313203758.pdf
basicmodesofventilation2022-220313203758.pdf
aljamhori teaching hospital
 

Recently uploaded (20)

Are There Any Natural Remedies To Treat Syphilis.pdf
Are There Any Natural Remedies To Treat Syphilis.pdfAre There Any Natural Remedies To Treat Syphilis.pdf
Are There Any Natural Remedies To Treat Syphilis.pdf
 
Physiology of Chemical Sensation of smell.pdf
Physiology of Chemical Sensation of smell.pdfPhysiology of Chemical Sensation of smell.pdf
Physiology of Chemical Sensation of smell.pdf
 
ANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptx
ANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptxANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptx
ANATOMY AND PHYSIOLOGY OF URINARY SYSTEM.pptx
 
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journey
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness JourneyTom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journey
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journey
 
Non-respiratory Functions of the Lungs.pdf
Non-respiratory Functions of the Lungs.pdfNon-respiratory Functions of the Lungs.pdf
Non-respiratory Functions of the Lungs.pdf
 
The POPPY STUDY (Preconception to post-partum cardiovascular function in prim...
The POPPY STUDY (Preconception to post-partum cardiovascular function in prim...The POPPY STUDY (Preconception to post-partum cardiovascular function in prim...
The POPPY STUDY (Preconception to post-partum cardiovascular function in prim...
 
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...
 
Charaka Samhita Sutra sthana Chapter 15 Upakalpaniyaadhyaya
Charaka Samhita Sutra sthana Chapter 15 UpakalpaniyaadhyayaCharaka Samhita Sutra sthana Chapter 15 Upakalpaniyaadhyaya
Charaka Samhita Sutra sthana Chapter 15 Upakalpaniyaadhyaya
 
Surat @ℂall @Girls ꧁❤8527049040❤꧂@ℂall @Girls Service Vip Top Model Safe
Surat @ℂall @Girls ꧁❤8527049040❤꧂@ℂall @Girls Service Vip Top Model SafeSurat @ℂall @Girls ꧁❤8527049040❤꧂@ℂall @Girls Service Vip Top Model Safe
Surat @ℂall @Girls ꧁❤8527049040❤꧂@ℂall @Girls Service Vip Top Model Safe
 
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists  Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists
 
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdf
ARTIFICIAL INTELLIGENCE IN  HEALTHCARE.pdfARTIFICIAL INTELLIGENCE IN  HEALTHCARE.pdf
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdf
 
Phone Us ❤85270-49040❤ #ℂall #gIRLS In Surat By Surat @ℂall @Girls Hotel With...
Phone Us ❤85270-49040❤ #ℂall #gIRLS In Surat By Surat @ℂall @Girls Hotel With...Phone Us ❤85270-49040❤ #ℂall #gIRLS In Surat By Surat @ℂall @Girls Hotel With...
Phone Us ❤85270-49040❤ #ℂall #gIRLS In Surat By Surat @ℂall @Girls Hotel With...
 
THOA 2.ppt Human Organ Transplantation Act
THOA 2.ppt Human Organ Transplantation ActTHOA 2.ppt Human Organ Transplantation Act
THOA 2.ppt Human Organ Transplantation Act
 
heat stroke and heat exhaustion in children
heat stroke and heat exhaustion in childrenheat stroke and heat exhaustion in children
heat stroke and heat exhaustion in children
 
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stock
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in StockFactory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stock
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stock
 
Ocular injury ppt Upendra pal optometrist upums saifai etawah
Ocular injury  ppt  Upendra pal  optometrist upums saifai etawahOcular injury  ppt  Upendra pal  optometrist upums saifai etawah
Ocular injury ppt Upendra pal optometrist upums saifai etawah
 
Hemodialysis: Chapter 3, Dialysis Water Unit - Dr.Gawad
Hemodialysis: Chapter 3, Dialysis Water Unit - Dr.GawadHemodialysis: Chapter 3, Dialysis Water Unit - Dr.Gawad
Hemodialysis: Chapter 3, Dialysis Water Unit - Dr.Gawad
 
For Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #Girls
For Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #GirlsFor Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #Girls
For Better Surat #ℂall #Girl Service ❤85270-49040❤ Surat #ℂall #Girls
 
Flu Vaccine Alert in Bangalore Karnataka
Flu Vaccine Alert in Bangalore KarnatakaFlu Vaccine Alert in Bangalore Karnataka
Flu Vaccine Alert in Bangalore Karnataka
 
basicmodesofventilation2022-220313203758.pdf
basicmodesofventilation2022-220313203758.pdfbasicmodesofventilation2022-220313203758.pdf
basicmodesofventilation2022-220313203758.pdf
 

Glucose 6-phosphate dehydrogenase deficiency

  • 1. Glucose-6-phosphate dehydrogenase deficiency By Dr. Afuye {MB;BS Ilorin} Federal Medical Centre, Owo.
  • 2. Outline • Introduction • History • Epidemiology • Risk Factors • Pathophysiology • Aetiology • Signs and symptoms • Management • Prognosis • Conclusion • References
  • 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
  • 14.
  • 15. Management PRESENTATION: • Majorly Asymptomatic • Chronic Haemolytic Anaemia Very rare • Acute Haemolytic Anaemia: Triggers
  • 16. History/Signs and symptoms • Asymptomatic • Pallor • Jaundice • Dark urine (haemoglobinuria) • Fatigue/weakness • Shortness of breath • Tachycardia • Fever • Dizziness • Splenomegaly
  • 17. • At-risk demography • Family History • Drug History • Dietary History • History of infection
  • 18. Lab findings • FBC: • Peripheral smear: Anaemia: Normochromic Normocyctic • Anisocytosis: RBC distribution width • Poikilocytes • Bite Cells • Heinz Bodies • Reticulocytes LDH1 Haptoglobin Carboxyhaemoglobin
  • 19. • Urinalysis • Serum bilirubin check • Liver function test • Coombs test
  • 20. Diagnosis • Screening Tests • Beutler Fluorescent Spot Test: NADPH Fluorescence • Methylene blue Reduction Test • Cresylblue dye descolorization • Cytochemical staining • Genetic testing for G6PD variants – DNA /PCR
  • 21. Confirmation Tests: • Definitive biochemical test is G6PD spectrophotometry If positive: • G6PD Activity • NADPH generated
  • 22. Treatment • Avoid/Remove triggers • Avoid unsafe meds • Dietary Restrictions • Hydration • Blood transfusion • Dialysis
  • 23. • Folic Acid Supplementation: • Chronic Haemolysis • 1mg/day • Splenectomy • Vitamin E and selenium
  • 24. Differential Diagnosis • Sickle cell disease • Autoimmune haemolytic anaemia • Isoimmune haemolytic anaemia i.e. ABO incompatibility • AGN Gilbert Syndrome • Hemolytic Disease of the Newborn • Hereditary Spherocytosis • Methemoglobinemia • Mismatched Blood Transfusion • Paroxysmal Cold Hemoglobinuria • Paroxysmal Noctunal Hemoglobinuria • Pyruvate Kinase Deficiency
  • 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