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11 Cards in this Set

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Etiology of Glucose-6-phosphate dehydrogenase deficiency
X-linked recessive hereditary disorder
Several variants exist
follows Malaria belt
most common enzyme deficiency in world
3 common variants of G6PD
1. G6PD A- (individuals of African descent)
2. G6PD Mediterranian (ind. of Greek ancestry
3. G6PD Canton (assoc. w/ of SE Asian ancestry)
Pathophysiology of G6PD
1. deficiency of G6PD prevents reduction of NADP to NADPH.
2. inadequate NADPH prevents production of glutathione which protects against oxidants.
3. Glutathione exhausted under oxidative stress, exposing RBCs to splenic sequestration (remove Heinz bodies)
Sources of oxidative stress leading to G6PD deficiency related HEMOLYTIC ANEMIA
exposure to drugs or other substances:
primaquine (anti-malarial), broad beans (fava beans), Sulphonamide antibiotics, severe infection
Clinical findings of G6PD
most people asymptomatic, not anemic
During Hemolytic episodes:
-sudden anemia, abdominal & lower back pain, dark urine from hemoglobinuria, hemoglobinemia, jaundice
Lab findings of G6PD
NORMOCYTIC, NORMOCHROMIC anemia
INCREASED retics
polychromasia, bite cells (from splenic sequestering), schizocytes
Heinz bodies (in supravital stain)
Fluorescence of NADPH
confirmed by G6PD assay
Etiology of Pyruvate Kinase deficiency
inherited autosomal recessive disorder of affecting RBC survival
decreased production of ATP in embden-meyerhof pathway
Pathophysiology of PK deficiency
ATP required by RBC for cellular integrity, cation gradient, maintenance of Hb in reduced state (ferrous=2+)
lack of PK causes decreased production of ATP
ADP + 2PEP --X--> 2Pyruvate + ATP
Clinical findings of PK deficiency
mild to moderate anemia w/ splenomegaly
jaundice
intermittent dark urine
GALLSTONES
onset can happen at any age (earlier age discovered=more severe)
Lab findings of PK deficiency
NORMOCYTIC, NORMOCHROMIC anemia
INCREASED retic
polychromasia, poikilocytosis
Fluorescence - persistence of fluoresence indicated PK deficiency
Quantitative PK assay definitive test
Methemoglobin Reductatse Deficiency characteristics
-Hereditary condition
-Enzyme deficiency results in increase in methemoglobin
-CYANOSIS
-benign course of disease