Introduction

Glucose-6-Phosphate
Dehydrogenase
deficiency
Glucose-6-Phosphate
Dehydrogenase(G6PD) deficiency is
the most common human enzyme
deficiency; an estimated 400 million
people worldwide are affected by this
enzymopathy.
G6PD is caused due to a deficiency of
a chemical enzyme called G6PD found
in the red blood cells. This syndrome is
more common in males than females,
but females can carry it sometimes.
This deficiency won’t show any
symptoms. It causes severe injury to
red blood cells by breaking the RBC’s
down.
 It is most prevalent in people
of African, Mediterranean, and Asian
ancestry.
 One benefit of having G6PD
deficiency is that it confers a
resistance to malaria.
G6PD deficiency is also sometimes
referred to as favism since some
G6PD deficient individuals are also
allergic to fava beans.
Galactose
mia
History of galactosemia
• Galactosemia was first "discovered"
in 1908. Von Ruess, in a 1908
publication entitled, "Sugar
Excretion in Infancy," reported on a
breast-fed infant with failure to
thrive, enlargement of the liver and
spleen, and "galactosuria".
recognized inherited disorder and was
treated by removal of milk products
from the diet.
1935- The disease was first recognized
and described in detail in by Mason
and Turner. Leloir worked out the
metabolic pathway and the process of
sugar-nucleotides and won the Nobel
prize in Chemistry in 1970 for his
work. He and coworkers elucidated the
pathway for converting galactose to
caused it was found.
1963- Another major break-through
was when it was first found to be
detectable through a newborn
screening method. This method
was developed by Guthrie and
Paigen. Galactosemia was the
second disorder found to be
detectable through newborn
screening methods by Robert
Galactosemia
-is a rare genetic metabolic disorder
that affects an individual's ability to
metabolize the sugar galactose
properly. Galactosemia is ussualy
confused withlactose intolerance. But
then Galactosemia follows an
autosomal ressecive mode of
inheritance that confers a deficiency in
an enzyme responsible for adequate
galactose degradation.
Three types:
Type I – classic galactosemia
Type II –galastokinase deficiency
Type III –galactose epimerase
deficiency, UDP-Galactose-4-
epimerase deficiency
Glucose-6-Phosphate
Dehydrogenase
deficiency
Incidence
The most common human enzyme defect inherited from a
female who carries one defective X chromosome. The
son of any female carrier who shall inherit the x-
chromosome will have G6PD deficiency, while the
daughter who receives the gene will eventually become
a carrier without manifesting any of its sign or
symptoms.

G6PD is present in more than 400 million people

worldwide. This condition occurs most frequently in
certain parts of Africa, Asia, and the Mediterranean. It
affects about 1 in 10 African-American males in the
United States.
RISK FACTORS
• The only known risk factor for having the
disorder is a family history of G6PD
deficiency.
• This is also common with blacks and with
males.
• It occurs frequently in Asia, Africa and
the Mediterranean
CAUSE
• The cause of G6PD is a defective G6PD gene
found in the X-chromosome of the sex
chromosome.
• The destruction of red blood cells can
triggered by infections, severe stress, certain
foods (such as fava beans), and certain drugs,
including:Antimalarial drugs, Aspirin,
Nonsteroidal anti-inflammatory drugs
(NSAIDs), Quinidine, Quinine, Sulfonamides
 Diagnostic
Examinations
Reticulocyte Count
A reticulocyte count measures the percentage of reticulocytes
(slightly immature red blood cells) in blood. The procedure is
same with G6PD lever test. The blood sample is sent to a
laboratory. A special stain is used to identify the reticulocytes.

The test is done to determine if red blood cells are being created
in the bone marrow at an appropriate rate. The number of
reticulocytes in the blood is a sign of how quickly they are
being produced and released by the bone marrow.

The normal range depends on the level of hemoglobin, and the

range is higher if there has been bleeding or red cell
destruction.
Abnormal results
A low reticulocyte count indicates that the bone marrow
is not producing a normal number of red blood cells.
Low production may be caused by a lack of vitamin
B12, folic acid, or iron in the diet; or by an illness
affecting the bone marrow.
The reticulocyte count rises when the bone marrow
makes more red cells in response to blood loss or
treatment of anemia.
Complete Blood Count (CBC) Test
One of the most commonly ordered clinical laboratory tests, a
blood count, also called a complete blood count (CBC), is a
basic evaluation of the cells (red blood cells, white blood cells,
and platelets) suspended in the liquid part of the blood
(plasma). It involves determining the numbers, concentrations,
and conditions of the different types of blood cells.
The CBC test also provides specific information the size and
hemoglobin content of individual red blood cells.
The test can reveal problems with red blood cell production and
destruction.
Abnormal results
Abnormal blood count results are seen in a
variety of conditions. One of the most
common is anemias, which are characterized
by low RBC counts, hemoglobins, and
hematocrits.
These abnormal red blood cells
(RBCs) resemble targets. These
cells are seen in association with
some forms of anemia.
Haptoglobin Test
This test is done to help evaluate a person for hemolytic anemia.
Haptoglobin is a blood protein made by the liver. The haptoglobin
levels decrease in hemolytic anemia. Hemolytic anemias include a
variety of conditions that result in hemolyzed, or burst, red blood
cells.
Hemoglobin is the protein in the red blood cell that carries oxygen
throughout the body. Iron is an essential part of hemoglobin;
without iron, hemoglobin cannot function. Haptoglobin's main role
is to save iron by attaching itself to any hemoglobin released from a
red cell.
When red blood cells are destroyed, the hemoglobin is released.
Haptoglobin is always present in the blood waiting to bind to
released hemoglobin. White blood cells (called macrophages) bring
the haptoglobin-hemoglobin complex to the liver, where the
haptoglobin and hemoglobin are separated and the iron is recycled.
In hemolytic anemia, so many red cells are destroyed that most of
the available haptoglobin is needed to bind the released
hemoglobin. The more severe the hemolysis, the less
haptoglobin remains in the blood.
Haptoglobin is measured in several different ways. One way is
called ratenephelometry. A person's serum is mixed with a
substance that will bind to haptoglobin. The amount of bound
haptoglobin is measured using a rate nephelometer, which
measures the amount of light scattered by the bound
haptoglobin. Another way of measuring haptoglobin is to
measure it according to how much hemoglobin it can bind.
Normal results vary based on the laboratory and test method
used. Haptoglobin is not present in newborns at birth, but
develop adult levels by 6 months.
Beutler fluorescent spot test 
The Beutler fluorescent spot test is a rapid and inexpensive test that
visually identifies NADPH produced by G6PD under ultraviolet
light. When the blood spot does not fluoresce, the test is positive;
it can be falsely negative in patients who are actively hemolysing.
It can therefore only be done 2–3 weeks after a hemolytic episode.
When a macrophage in the spleen identifies a RBC with a Heinz
body, it removes the precipitate and a small piece of the
membrane, leading to characteristic "bite cells". However, if a
large number of Heinz bodies are produced, as in the case of
G6PD deficiency, some Heinz bodies will nonetheless be visible
when viewing RBCs that have been stained with crystal violet.
This easy and inexpensive test can lead to an initial presumption
of G6PD deficiency, which can be confirmed with the other tests.
Treatment and
management
Medication:
• no medication needed
 
Treatment:
• Transfusions, in some cases
• Exposing newborn to bright lights (bili lights)
 
Alternative treatment:
• Vitamin E
• Folic acid
• And both antioxidant

Prevention:
• Avoid drugs that are causing RBC destruction
• Avoid Fava beans
• Or inhaling pollen fava plants
 Nursing
Management for
babies with G6PD
Mothers are advised to stop breast feeding their
infants for a short period of time as breast milk might
interfere with the liver’s ability to conjugate bilirubin.
Both breast-feeding mother and child must avoid fava
beans (broad beans). Fava bean remains the most
common food to avoid for G6PD deficient
individuals
Also avoid legumes, products containing sulfites,
products containing blue food coloring, tonic water
(contains quinine)
Advised to choose milk formulas which have no
traces of soya or soybeans
Advised that Soy products, blueberries and red wine are also
trigger symptoms of G6PD
Avoid exposure to naphthalene (a chemical found in mothballs
and moth crystals)
Be aware of the signs and symptoms like:
– Paleness
– rapid heartbeat
– rapid breathing or shortness of breath
– jaundice, or yellowing of the skin and eyes, particularly in
newborns
– an enlarged spleen
– dark, tea-colored urine