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    SubjectsMedicineHereditary Hemochromatosis
    ClinicalMedicine

    Hereditary Hemochromatosis

    2 MCQs in Medicine for NEET PG

    2 Medium
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    Sample Questions

    medium

    A 45-year-old man of Northern European descent presents with fatigue, arthralgia in the second and third metacarpophalangeal joints, and hepatomegaly. Serum transferrin saturation is 68% and ferritin is 1200 ng/mL. HFE genotyping reveals the genotype marked **B** in the diagram. Which of the following best describes the expected phenotype and clinical course in this patient?

    medium

    A 45-year-old man of Northern European descent presents with progressive fatigue, arthralgia in the second and third metacarpophalangeal joints, and hepatomegaly. Laboratory studies show transferrin saturation of 52% and serum ferritin of 580 ng/mL. HFE genotyping confirms C282Y homozygosity. The inheritance pattern marked **C** in the diagram represents the genetic basis of this patient's condition. Which of the following best explains the molecular pathophysiology underlying iron overload in this autosomal recessive disorder?

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