snímek PPT
Measuring of the G6-PD activity in the
RBC ? changing of the eating habits
Pyruvate kinase deficiency anemia
Embden-Meyerhof pathway, decline of
ATP production, symptoms may be
severe, specific enzyme assays (no other
specific features), drugs not implicated
in pathogenesis
Abnormal hemoglobin production
Point mutations of Hb are mostly
innocent, a small fraction is pathogenic:
? solubility and precipitation, ??
affinity to oxygen, unstability of
quaternal structure and Hb denaturation