G6PD DEFICIENCY

We will look at:

Causes
Symptoms
Triggers
Treatment
 What is G6PD Deficiency???
G6PD Deficiency is caused
due to a defect in an Enzyme
called Glucose 6 Phosphate
Dehydrogenase(G6PD )that
causes red blood cells to
break down prematurely.
G6PD is an Enzyme which
helps protect red blood
cells from being destroyed.
When G6PD Enzyme is
less in the body, it causes
G6PD Deficiency.
Glucose is the main type of
G6PD Deficiency is a sugar in the blood and is the
lifelong condition. G6PD major source of energy for
deficiency’s an inherited the body's cells. Glucose is
disorder in an X linked carried to the cells through
recessive manner the bloodstream.
G6PD Deficient people
There are 5 classes
absolutely live a normal
of G6PD deficiency. life, until it gets triggered.
 Red Blood
Cells

Red blood cells make up 40% of blood’s volume.

Red blood cells are made in the bone marrow and are doughnut shaped cells without a hole.
Red blood cells contain haemoglobin, a very important protein which gives blood it’s red colour.
When we breathe, as the blood passes through the lungs, it attracts oxygen molecules and then
both the RBC’s and hemoglobin transport this oxygen to all the cells and tissues of the body.

On their way back, they even carry CO2 and other waste gases to the lungs to be exhaled out.
 Enzymes

Enzymes speed up chemical reactions.

Enzymes are proteins, substances or in some cases ribonucleic acid (molecule similar to DNA).

Enzymes help in building muscles, destroying toxins, breaking down food during digestion, etc.

Enzymes work by lowering the amount of activation energy needed for the reactions to
happen.
Enzyme called glucose 6 phosphate Dehydrogenase (G6PD) protects red blood cells from being
destroyed. It is also involved in processing carbohydrates.

G6PD deficiency happens when the body doesn't have enough of an enzyme called glucose-6-
phosphate dehydrogenase (G6PD).
 Classes
Of
G6pd deficiency

Class – I Class – II
Severe enzyme
Severe enzyme Class – III
deficiency,
deficiency
Moderate
Class – IV
intermittent
chronic
(occurring at enzyme
Severe enzyme Class – V
(constantly deficiency
irregular intermittent intermittent Increased
recurring)
intervals) acute acute enzyme
hemolysis
acute hemolysis hemolysis activity
hemolysis
This classification is from World Health Organisation(WHO)
Causes
 Cause of G6PD Deficiency
G6PD Deficiency is caused by mutations of a G6PD gene.
This gene tells the body to make enzymes called G6PD,
which is involved in making carbohydrates. This also
protects red blood cells from bad, harmful molecules.
Mutations in a G6PD’s gene lower the amount/ alter the
structure , unable to play the role of protecting red blood
cells. As the result, the harmful molecules damage red
blood cells.
The gene responsible for this condition is on the X
chromosome.
 Mutations

There are 2 types of mutations; germ

line (hereditary) and Somatic
Mutations are
(Acquired) mutations. Germ line
changes in a DNA
mutations occur in the eggs and
sequence. It can
sperms which can be passed to the
result from DNA
child, while somatic mutations occur
copying mistakes
when the cells of the body are not
made during cell
passed on. Germ – line mutations in
division.
the X chromosome causes G6PD
deficiency.
 There are total 23
pairs of Chromosomes are
chromosomes, 22 strands of DNA which
pairs of autosomes, are encoded with
and 1 pair of sex genes
chromosomes.

Chromosomes
There are two Sex
Chromosomes: X and Y.
G6PD deficiency is caused
Males have X & Y
when mutations occur in
chromosomes, and
the X chromosome.
females have two X
chromosomes.
 1. DNA or deoxyribonucleic acid is a long
molecule present in the chromosomes.
2. DNA contains a genetic code/ instructions.
3. It looks like a twisted ladder, with two long,
thin strands connected by rungs.

D.N.A.
 X-linked recessive inheritance

G6PD deficiency is an inherited disorder in an X linked recessive manner.

X-linked recessive inheritance refers to genetic conditions associated with mutations in genes
on the X chromosome.

People who are African - American, and Middle eastern descent, who might have a family
history of this deficiency, mostly males, are prone to be G6PD deficient.
 Why is G6PD Deficiency more common in males?
Males
Males have only one X
chromosome. Since males
have a single X
chromosome, if it is
defective/ affected, the
deficiency is present in his
body. It is more common
in males.
Females
Females have two X
chromosome. Since
females have two X
chromosome, if it is
defective/ affected, the
deficiency is present in his
body. It is more common
in males.
Affected Father Unaffected Mother

XY XX

XX XY

CARRIER HEALTHY
Unaffected Father Carrier Mother

XY XX

XX XY

G6PD
CARRIER
DEFICIENT
Affected Father Carrier Mother

XY XX

XX XY

G6PD G6PD
DEFICIENT DEFICIENT
Sympto
ms
 Symptoms

Urine that is dark Shortness of

Dizziness
or yellow-orange breath

Fever Rapid heart rate Paleness

Haemolytic
Fatigue Jaundice
anaemia
 Neonatal Jaundice

• Jaundice is a common condition where the skin and eyes turn yellow because of high
levels of bilirubin.
• It is caused when a baby’s liver is not mature (fully developed physically) enough to get
rid of bilirubin in the bloodstream.
• Normal bilirubin levels in baby’s are 5.2 milligrams per deciliter(mg/dl) and in an adult,
it is 0- 0.4 mg/dl.
• Jaundice in G6PD deficient babies, is considered to be due to an imbalance of
production and conjugation of bilirubin.
• It has been reported that one-third of babies with G6PD deficiency develop neonatal
jaundice.
• It can be also caused when a baby’s liver is not mature (fully developed physically)
enough to get rid of bilirubin in the bloodstream.
 Bilirubin levels
Bilirubin is an orange-yellow pigment that occurs normally when a part of your red
blood cells breaks down.
Normal bilirubin levels in baby’s are 5.2 milligrams per deciliter(mg/dl) and in an adult, it
is 0- 0.4 mg/dl.
This bilirubin travels from the liver into the small intestine. A very small amount passes
into your kidneys and is excreted in your urine.
If your bilirubin levels are higher than normal, it’s a sign that either your red blood cells
are breaking down at an unusual rate, that your liver isn’t breaking down waste properly
and clearing the bilirubin from your blood or there’s a problem somewhere along the
pathway that gets the bilirubin out of your liver and into your stool.
 Haemolytic Anaemia

1. Hemolytic anemia 3. When there is no

is a disorder in which enough G6PD enzyme to 2. It is caused by
red blood cells are protect red blood cells, red many diseases such as
destroyed faster than blood cells break down sickle cell disease,
they can be made. unnaturally. When many bone marrow failure
This destruction of red blood cells are and also G6PD
red blood cells is destroyed, it can cause deficiency.
called hemolysis. hemolytic anemia.
Trigger
s
 Triggers of G6PD deficiency
Foods:
Fava Beans, legumes(chickpeas, black eyed peas, lima beans etc)

Medicines:
Furazolidone, sulpha drugs, nalidixic acid, etc

Chemicals:
Naphthalene (found in moth balls, n camphor etc)

These are a few things G6PD deficient people should avoid

Treatm
ent
 Treatment

Treating G6PD deficiency symptoms is usually as simple as

removing the trigger. Often, this means treating the infection or
stopping the use of a drug.