INTRINSIC HEMOLYTIC ANEMIAS: DUE TO METABOLIC DISORDERS Flashcards
● Inherited sex-linked
● Complex heterogenous disorder w/c is ubiquitous
● MOST COMMON defect seen in enzyme deficient hemolytic anemia
G6PD Deficiency
G6PD Deficiency type that is seen in black, w/ mild hemolytic conditions
type A
G6PD Deficiency type that is seen in Mediterranean race, more
susceptible to severe oxidant hemolysis
type b
most delicate; life threatening and occurs within an hour after eating fava beans
Favism
G6PD Deficiency lab tests (2)
● Methyl violet or crystal violet stains
● Dye Reduction test
● MOST COMMON RED CELL ENZYME DEFICIENCY involving the Embden-Meyerhof Glycolytic Pathway
● Inherited disorder
Pyruvate Kinase Deficiency
● Mild to moderately hemolytic anemia w/splenomegaly
● Seen commonly in children
Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency Peripheral smear
● No notable red cell abnormalities until after splenomegaly
● Echinocytes/ Spiculated RBCs
● Irregularly contracted red cells
● Crenated red cells may be prominent
INHERITED; caused by an abnormality in nucleotide metabolism
Pyrimidine-5- Nucleotidase (PN) Deficiency
Pyrimidine-5- Nucleotidase (PN) Deficiency occurs in ____ & responsible for ______
Acquired occurs in lead poisoning & responsible for the basophilic stippling
Pyrimidine-5-Nucleotidase (PN) Deficiency lab findings
● Reticulocytosis is observed
● Positive in the demonstration of decreased Nucleosidase activities
This causes an abnormality in ANAEROBIC GLYCOLYSIS (dec. O2 content) causing a moderately severe anemia
Glucose Phosphate Isomerase Deficiency
Glucose Phosphate Isomerase Deficiency lab findings
Reticulocyte count may be significantly INCREASED
Glucose Phosphate Isomerase Deficiency peripheral smear
red cells shown ANISOCYTOSIS & POIKILOCYTOSIS
other enzyme deficiencies in anaerobic glycolysis
Triosephosphate Isomerase, Hexokinase and Diphosphoglycerate Mutase Deficiency
