Pyruvate kinase Deficiencies - 2
Mechanism of anemia:
Decreased
ATP, ADP, and AMP levels
Increased
levels of 2,3-BPG
Results
in a rigid cell removed by macrophages of spleen
and liver
Clinical features:
Severe
neonatal anemia
Fully
compensated anemia in adults
And
all degrees of anemia in between
Laboratory features:
Normocytic
normochromic type anemia
Slight
macrocytosis due to reticulocytosis
Normal
osmotic fragility
Abnormal
incubated osmotic fragility