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DEHYDROGENASE DEFICIENCY
Members
LLANES, Theresa Dianne *
LOCANDO, Edmarie *
LLEMOS, John Zandro *
LLANES, Christian Darwin
LISING, Jeru
LIMPALAN, Melanie
GLUCOSE-6PHOSPHATE
DEHYDROGENASE
DEFICIENCY
a hereditary disease
characterized by abnormally
low levels of glucose-6phosphate dehydrogenase
causing hemolytic anemia due
to inability to detoxify oxidizing
agents
WHAT IS GLUCOSE-6-PHOSPHATE
DEHYDROGENASE?
It is an enzyme in the pentose
phosphate pathway.
It converts glucose-6-phosphate
into 6-phosphoglucono--lactone
It is the rate-limiting enzyme of
this metabolic pathway.
EPIDEMIOLOGY
most common human enzyme
defect, affecting more than 400M
people worldwide
highest prevelance in tropical
Africa, Middle East, South Asia
and parts of the Mediterranean
CLASSIFICATION
I-Very Severe deficiency (<2% activity) with chronic
(nonspherocytic) hemolytic anemia
Classes
Enzyme deficiency
Hemolysis
Class I
Chronic hemolytic
anemia even in the
absence of stress
Class II
Severe (<10% of
normal activity)
Class III
Class IV
No enzyme
N/A
deficiency (60-150%)
Great interest as
genetic markers
Class V
No enzyme
deficiency
(>150%)
No clinical
significance
N/A
Important details
Results in
hereditary
nonspherocytic
hemolytic anemia
Summary
located on the long (q) arm of the X
chromosome at position 28
Generally in males
Females can also be affected provided
both X gene is variant
GENETICS
INFECTION:
Inflammatory response to infection results in
generation of free radicals in macrophages, which
diffuse into red cells causing oxidative damage.
JAUNDICE:
resulting
from
impaired
hepatic
catabolism
of heme or
increased
production
of bilirubin
DIAGNOSIS
TREATMENT
The most important measure is PREVENTION avoidance of the drugs and foods that cause hemolysis.
Vaccination against some common pathogens (e.g.
hepatitis A and hepatitis B) may prevent infectioninduced attacks.
In the acute phase of hemolysis, blood transfusions
might be necessary
Dialysis in acute renal failure
Some patients may benefit from removal of the spleen;
splenectomy, as this is an important site of red cell
destruction.
Folic acid should be used in any disorder featuring a
high red cell turnover.
Glutathione
helps maintain the reduced states of sulfhydryl groups in proteins, including
hemoglobin
removes H2O2 via glutathione peroxidase
Accumulation of H202
hemolysis
ENVIRONMENTAL TRIGGERS
Factors causing Oxidative Stress precipitate clinical
manifestations of G6PD Deficiency.
OXIDANT DRUGS:
Antibiotics: Sulfonamides (such as sulfanilamide,
sulfamethoxazole and mafenide), a few non-sulfa
antibiotics (nalidixic acid, nitrofurantoin, isoniazid,
furazolidone and chloramphenicol)
Antimalarials: primaquine, pamaquine and chloroquine
Antipyretics: aspirin, phenazopyridine and acetanilide
Henna has been known to cause haemolytic crisis in
G6PD-deficient infants.
What
complications
of
G6PD
deficiency make DNA analysis best
identification of carriers and patient
diagnosis?
G6PD enzyme testing is primarily performed
when an individual has signs and symptoms
associated with hemolytic anemia and
jaundice.