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B Looooo DDD

A 32-year-old black man experienced fainting and dark urine after taking primaquine to prevent malaria. This likely resulted from glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked enzymatic defect common in blacks. G6PD deficiency causes red blood cells to rupture when exposed to oxidizing drugs or illnesses due to the cells' inability to prevent oxidative damage without the enzyme. Expected lab findings for the patient would include low hemoglobin and signs of hemolysis.

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Mica Saeron
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23 views9 pages

B Looooo DDD

A 32-year-old black man experienced fainting and dark urine after taking primaquine to prevent malaria. This likely resulted from glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked enzymatic defect common in blacks. G6PD deficiency causes red blood cells to rupture when exposed to oxidizing drugs or illnesses due to the cells' inability to prevent oxidative damage without the enzyme. Expected lab findings for the patient would include low hemoglobin and signs of hemolysis.

Uploaded by

Mica Saeron
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd

Glucose-6-Phosphate

Dehydrogenase
Deficiency

OBJECTIVES
To identify the diagnostic significance
of the abnormal findings
Describe the Laboratory findings of
G6PD deficiency
To correlate the sign and symptoms
manifested by the patient diagnosis

Case
James, a 32-year- old black man, had been
healthy until he began taking primaquine for
prevention of malaria. He went to his physician
because he felt faint and his urine was black.
Questions:
1. What is the most likely cause of this hemolytic
anemia?
2. What is the defect associated with the disorder
described in this case?
3. When exposed to oxidants, what do patients
with this disorder form?
4. If a CBC was done on patient, what is the
expected blood picture?

Glucose-6-Phosphate
Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase (G6PD)
deficiency is an X-linked enzymatic defect
common in blacks that can result in
hemolysis after acute illnesses or intake or
exposure of drugs that will trigger
hemolysis (including Nitrofurantoin,
antimalarial drugs, sulfa drugs ).
Symptoms:
Jaundice
Shortness of breath
Rapid Heart rate
Dark Urine
Fatigue
Enlarged spleen

Lab Findings:
CBC:

hgb
Reticulocyte count
PBS: Polychromasia
RBC morphology varies from normal to marked
anisocytosis, poikilocytosis, spherocytosis,or
schistocytosis, depending on severity
Bite cells , Heinz Bodies
Direct Antiglobulin Test Result: Negative
Indicators of Hemolysis:
Serum Haptoglobin
Serum Lactate Dehydrogenase
Serum Indirect Bilirubin
Hemoglobinemia
Hemoglobinuria

Clinical Significance
The enzyme glucose-6-phosphate dehydrogenase
(G6PD) is one of the enzymes of the pentose
phosphate pathway. This pathway is involved in
keeping an adequate amount of the coenzyme
nicotinamide adenine dinucleotide phosphate
(NADPH) in cells. NADPH in turn maintains the
levels of glutathione which protects the red cell
from oxidative damage. G6PD is the ratelimiting enzyme in the pentose phosphate
pathway. Thus, deficiency of the G6PD enzyme
results in reduced glutathione making the red
cells vulnerable to oxidative damage and thus
liable to haemolysis.

Lab Procedures
Qualitative Test : Rapid fluorescent Spot test
Quantitative : Quantitative G6PD

TREATMENT
Discontinuing drugs associated with Hemolysis.
Blood Transfusion

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