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## Diagnosis of G6PD Deficiency Hemolytic Anemia - Diagnosis of hemolytic anemia - CBC and reticulocytic count - Screening: - Qualitative assessment of G6PD enzymatic activity (UV-based test) - Confirmatory test: - Quantitative measurement of G6PD enzymatic activity - Molecular test: -...

## Diagnosis of G6PD Deficiency Hemolytic Anemia - Diagnosis of hemolytic anemia - CBC and reticulocytic count - Screening: - Qualitative assessment of G6PD enzymatic activity (UV-based test) - Confirmatory test: - Quantitative measurement of G6PD enzymatic activity - Molecular test: - Detection of G6PD gene mutation ## Pyruvate kinase deficiency (PK) - RBCs require constant energy to maintain biconcave disc shape and hemoglobin in reduced form. - Pyruvate kinase is an energy producing enzyme in the Glycolytic Embden-Meyerhof pathway. PK converts PEP to pyruvate, with the conversion of ADP to ATP. - Without adequate energy, red cells are unable to retain water which results in hemolysis due to cell shrinkage, distortion of shape, and increased membrane rigidity. ## Laboratory features - Hemoglobin: mild to marked decrease - The severity of anemia dictates degree of reticulocytosis, polychromasia, anisocytosis, poikilocytosis, and NRBCs. - Definitive test is PK enzyme assay. ## Hemoglobin molecule - Hb molecules - Heme components - One heme molecule - The globin ## Determining factors of adult hemoglobin composition - Adult hemoglobin - Composition in embryos ## Conditions caused by hemoglobin disorders - Conditions caused by hemoglobin disorders - Result from alpha and beta thalassemia, sickle cell disease, or hereditary persistence of fetal hemoglobin.