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Transcript

## G6PD Deficiency Hemolytic Anemia ### Symptoms * Tired, lacking energy * Rapid heart beat * Dizzy * Short of breath * Pale * Dark urine * Jaundice * Weak ### Laboratory findings * Laboratory evidence of hemolysis * Rise in plasma hemoglobin * Heinz bodies, visualized by means of a supravital s...

## G6PD Deficiency Hemolytic Anemia ### Symptoms * Tired, lacking energy * Rapid heart beat * Dizzy * Short of breath * Pale * Dark urine * Jaundice * Weak ### Laboratory findings * Laboratory evidence of hemolysis * Rise in plasma hemoglobin * Heinz bodies, visualized by means of a supravital stain such as crystal violet. * Heinz bodies are usually not seen after the first day or so, since these inclusions are readily removed by the spleen * "Bite cells": RBC that have lost a peripheral portion of the cell * Multiple bites cause the formation of fragments ### Diagnosis of G6PD deficiency hemolytic anemia * **Diagnosis of hemolytic anemia:** CBC and reticulocyte count * **Screening:** Qualitative assessment of G6PD enzymatic activity (UV-based test) * **Confirmatory test:** Quantitative measurement of G6PD enzymeactivity * False negative results may be obtained in the assays (qualitative and quantitative), if done during acute hemolytic episode or after blood transfusion, so the test is to be repeated after 4-6 weeks * **Molecular test:** Detection of G6PD gene mutation

Tags

anemia hemolytic genetic disorder
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