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    SubjectsPathologyPyruvate Kinase Deficiency (PKLR, AR)
    Para-clinicalPathology

    Pyruvate Kinase Deficiency (PKLR, AR)

    1 MCQs in Pathology for NEET PG

    1 Medium
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    Sample Questions

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    A 4-year-old girl of Amish descent presents with lifelong neonatal jaundice, chronic anemia (Hb 8.5 g/dL), splenomegaly, and pigment gallstones. Peripheral smear shows echinocytes with increased reticulocytes; osmotic fragility test is normal. Genetic testing reveals a homozygous missense mutation in the gene marked **A** on the diagram. Which of the following best explains why this patient tolerates her anemia better than the hemoglobin level would suggest?

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