Glucose-6-Phosphate ALSANGEDY

Dehydrogenase (G6PD)
Deficiency BULLETS™
 An inborn error of metabolism
FOR PACES
predisposes to red blood cell FOR EASY PASSING PACES FROM
breakdown THE 1ST ATTEMPT
Dr. Ibrahim Alsangedy
 Most patients are asymptomatic MRCP-UK, MRCEM-UK, MRCPE, AMC
CAT (AU), IDHA (USA), M.SC (ICU),
 Most patients are not anemic ADDM, HCQM
 Episodes of intravascular
hemolysis and consequent anemia
can be triggered
 Infections
 Medicines that induce
oxidative stresses
 Fava beans
 Ketoacidosis
 Hemolysis begins 24 to 72 hours
after trigger exposure
 Acute hemolysis is self-limiting
 Jaundice and splenomegaly in
patients with severe hemolysis
 Hyperbilirubinemia & cholelithiasis
Workup
 Tests to diagnose hemolysis
include the following:
 Complete blood cell count
 Reticulocyte count
 Lactate dehydrogenase
(LDH) level
 Indirect and direct
bilirubin level
 Serum haptoglobin level
 Urinalysis for hematuria
 Urinary hemosiderin
 Peripheral blood smear
 The Beutler test
 A semi-quantitative rapid
fluorescent spot test
 Is positive if the blood
spot fails to fluoresce
under ultraviolet light
 The Beutler test is not
reliable in females
 Quantitative assay of GPD
activity
 The molecular analysis useful
for females who may be
hemizygous or G6PD gene
mosaicism
Differential Diagnoses Management
 Hemolytic Anemia  Most individuals with (G6PD)
deficiency do not need
 Hemolytic Disease of the treatment
Newborn
 They should be taught to
 Hereditary Spherocytosis avoid drugs and chemicals
that can cause oxidant stress
 Kernicterus
 Patients should also avoid
 Methemoglobinemia broad beans (ie, fava beans)
 Sickle Cell Anemia  Discontinuation of the
precipitating agent is critical
 Unstable hemoglobin disorders to manage hemolysis in
patients with G6PD deficiency
Favism  Anemia should be treated
with appropriate measures
 Is a hemolytic response to the  Hemolysis is self-limited and
consumption of fava beans (broad often resolves in 8 to 14 days
beans)
 Transfusions are rarely
 Though all individuals with favism indicated
show G6PD deficiency, not all
individuals with G6PD deficiency  Splenectomy is usually
show favism ineffective