G6PD Deficiency

(Hereditary Abnormalities)
GROUP 3
Glucose 6-phosphate dehydrogenase
(G6PD)
one of many enzymes that help the body
process carbohydrates and turn them into
energy
also protects red blood cells from potentially
harmful by products that can accumulate
when a person takes certain medications or
when the body is fighting an infection
Glucose 6-phosphate dehydrogenase
deficiency (G6PD)
the most common enzymatic disorder of red
blood cells, affecting 400 million people
worldwide
an inherited condition in which the body
doesn't have enough of the enzyme glucose-6-
phosphate dehydrogenase, or G6PD, which
helps red blood cells (RBCs) function normally
provide resistance to malaria
Glucose 6-phosphate dehydrogenase
deficiency (G6PD)
can cause hemolytic anemia, usually after
exposure to certain medications, foods, or
even infections
Hemolytic Anemia occurs when the bone
marrow (the soft, spongy part of the bone
that produces new blood cells) cannot
compensate for this destruction by increasing
its production of RBCs.
 ENZYME VARIANTS
Normal forms
- B form
- A form
Deficiency forms
Two important mutant forms of G6PD
- A- isoenzyme
- Mediterranean isoenzyme
 DIFFERENT VARIANTS
Class I
Class II
Class III
Class IV
Class V
 PATHOPHYSIOLOGY
The G6PD enzyme catalyzes the oxidation of glucose-6-
phosphate and the reduction of nicotinamide adenine
dinucleotide phosphate (NADP+) to nicotinamide
adenine dinucleotide phosphate (NADPH) in the
pentose monophosphate shunt. NADPH is important in
maintaining glutathione in its reduced form, which
protects the red blood cell against oxidative stress.
Red blood cells carry oxygen and hence are more
susceptible to oxidative stress than other cells. The
pentose monophosphate shunt is the only means of
NADPH generation in red blood cells and therefore
crucial in protecting red cells against oxidative damage.
 PATHOPHYSIOLOGY
Jaundice in G6PD-deficient neonates is considered to be
due to an imbalance between the production and
conjugation of bilirubin, with a tendency towards
inefficient bilirubin conjugation. Premature infants are
at special risk of the bilirubin production-conjugation
imbalance.
In a G6PD deficient patient, oxidative stresses can
denature hemoglobin and cause intravascular
hemolysis.
Drugs, chemical agents, infections, ingestion of fava
beans, or ketoacidosis can trigger oxidative stress
leading to hemolysis.
 RISK FACTORS

being male
being African American
having a family history of the condition
being of Middle Eastern descent
 SYMPTOMS
rapid heart rate
fast breathing
urine that is dark and yellow-orange
spike in body temperature
yellowing of the skin
enlargement of spleen
 DIAGNOSING G6PD DEFICIENCY
A simple blood test can be done to check your
level of the G6PD enzyme. Other tests that
may be done include a complete blood count,
hemoglobin, checking your bilirubin level, and
a reticulocyte count, which measures
immature red blood cells.
Tell your doctor about your diet and any
medications you are taking. These details can
help your doctor with the diagnosis.
 FAVISM
one of the gravest clinical consequences of
G6PD deficiency
Commonly in children than adults
Hemolysis being noticed 1-2 days after
ingestion of the beans
 TREATMENT

There is no cure for the condition, but in severe

cases, a blood transfusion may be necessary.
Managing G6PD deficiency involves avoiding
foods and medications that can trigger the
condition. Reducing stress levels can also help in
controlling the disease. Ask your doctor for a
printed list of medications and foods that you
should avoid.
 TREATMENT
The most common chemicals and drugs
include some forms of:
 LAB FEATURES
In the absence of hemolysis, the light-
microscopic morphology of G-6-PD-deficient
red cells appears to be normal.
Differences in the texture of the stroma have
been observed under the electron
microscope. Even during hemolytic episodes,
morphologic changes are not striking.