Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder characterized by low levels of the G6PD enzyme. G6PD is involved in processing carbohydrates and protecting red blood cells from oxidative damage. Those with G6PD deficiency are at risk of hemolytic anemia when exposed to certain drugs and foods that cause oxidative stress. The deficiency has different classes of severity based on residual enzyme activity. Diagnosis involves testing for G6PD enzymatic activity and identifying gene mutations. Treatment focuses on managing anemia, while prevention involves avoiding triggers like certain drugs. The condition has a global distribution and mainly affects red blood cells.

1. 1
GLUCOSE-6-PHOSPHAT
DEHYDROGENASE DEFICIENCY
G6PD DEFICIENCYPresentation by
Mr Somnath K Kamble
Msc Part-1
Guru nanak college of science

2. 1. Introduction
2. Defination
3. G6PD ENZYME
4. Biochemical basis of G6PD
5. Causing factor’s
6. Different classes
7. Diagnosis of G6PD
8. Treatment & prevention
9. Global distrubution
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CONTENTS

3. WHAT IS THE G6PD
DEFICIENCY?
• Glucose-6-phosphate dehydrogenase
deficiency is X-linked recessive hereditary
genetic disorder producing Enzymes
abnormalities in human beings
• This is condition characterized by abnormally
low the level of glucose-6-phosphate-
dehydrogenase
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4. G6PD(GLUCOSE-6-PHOSPHATE-
DEHYDROGENASE)
• This is condition characterized by abnormally low the level
of glucose-6-phosphate-dehydrogenase
• Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme found
in the cytoplasm of all cells in the body
• It is a housekeeping enzyme that plays a vital role in the
prevention of cellular damage from reactive oxygen species
(ROS).
• It does this by providing substrates to prevent oxidative damage.
• This condition mainly affects red blood cells, which carry
oxygen from the lungs to tissues throughout the body.
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5. • The most common
medical problem
associated
with glucose-6-
phosphate
dehydrogenase
deficiency is
hemolytic anemia
• This type
of anemialeads to
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6. BIOCHEMICAL BASIS OF
G6PD DEFICIENCY HEMOLYTIC
ANEMIA
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7. CAUSING FACTORS
• Individual who have inherited one of many g6pd Mutution do not
show the Clinical manifestation
• Some of patients with g6pd may develop hemolytic anemia If they
are exposed or ingested the fallowing agents
1) Oxidant drugs – remember “AAA”
a) Antibiotics - ex .Sulfamethoxazole
b) antimarial - ex .Primaquins
c) Antipyretic - ex .Acetenilid
2) Gene Mutution -Glucose-6-phosphate dehydrogenase
deficiency results from mutations in the G6PD gene. This gene
provides instructions for making an enzyme called glucose-6-
phosphate dehydrogenase. This enzyme is involved in the normal
processing of carbohydrates.
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8. 2) Fevism -
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9. DIFFERENT CLASSES OF
G6PD DEFICIENCY HEMOLYTIC
ANEMIA
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There are 4 different classes:
1. I (Very severe)
2. II (Severe, e.g. Mediterranean)
3. III: (Moderate: G6PD A-)
4. IV: (Normal)
This classification is based on the residual enzyme
activity (Least in class I, and Highest in class IV)

10. DIAGNOSIS OF
G6PD DEFICIENCY
1)Diagnosis of hemolytic anemia:
Complete Blood Count (CBC) & reticulocytic count
2)Screening:
Qualitative assessment of G6PD enzymatic activity
(UV-based test)
3)Confirmatory test:
Quantitative measurement of G6PD enzymatic
activity
4)Molecular test:
Detection of G6PD gene mutation
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11. TREATMENT
Most individuals with glucose-6-phosphate dehydrogenase
(G6PD) deficiency do not need treatment.
Anemia should be treated with appropriate measures,
recognizing that hemolysis is self-limited and often resolves
in 8 to 14 days
Transfusions are rarely indicated.
Patients with chronic hemolysis or non-spherocytic anemia
should be placed on daily folic acid supplements.
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PREVENTION -
Patients with G6PD deficiency should avoid the following:
1)Oxidant drugs, such as the antimalarial drugs primaquine,
chloroquine, pamaquine, and pentaquine
3)Sulfonamides, such as sulfanilamide, sulfamethoxypyridazine,
sulfacetamide, sulfadimidine, sulfapyridine, sulfamerazine, and
sulfamethoxazole
3) Nonsteroidal anti-inflammatory drugs (NSAIDs), nitrofurantoin, and
phenazopyridine
3)Isobutyl nitrite, naphthalene (moth balls), phenylhydrazine, and

12. GLOBAL DISTRIBUTION OF
G6PD DEFICIENCY
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13. THANK YOU !
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References –
• Biochemistry 2nd Ed 2002 by U
Satyanarayan ,book and allied
public.
• https://ghr.nlm.nih.gov Genetic
home reference .NIH( National
library of medicine)