Iron metabolism: hereditary haemochromatosis: practice question

A Biochemistry question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Biochemistry · Iron metabolism: hereditary haemochromatosis

Sample item

A 45-year-old man has skin bronzing, new diabetes, arthropathy of the second and third metacarpophalangeal joints and hepatomegaly. Serum ferritin is 1800 ng/mL and transferrin saturation 78%. Which mechanism underlies his iron overload?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

D. Inadequate hepcidin production leading to unrestrained ferroportin-mediated iron absorption

Most hereditary haemochromatosis results from homozygous HFE C282Y mutation, which reduces hepatic hepcidin synthesis. With low hepcidin, ferroportin on enterocytes and macrophages remains active, so iron absorption and release are unrestrained and transferrin saturation rises. Iron deposits in liver, pancreas, heart, joints and skin; phlebotomy is the treatment.

Option by option

  • A. Excess hepcidin blocking ferroportin and trapping iron in macrophages

    Excess hepcidin occurs in anaemia of chronic disease and gives low serum iron.

  • B. Absent transferrin leading to unbound iron deposition

    Atransferrinaemia causes iron-deficient erythropoiesis with iron overload in tissues but presents in childhood with anaemia.

  • C. Increased heme oxygenase activity releasing iron from red cells

    Heme oxygenase activity is not the primary defect and does not raise transferrin saturation to this degree.

  • D. Inadequate hepcidin production leading to unrestrained ferroportin-mediated iron absorption (correct)

    Correct. Low hepcidin leaves ferroportin unchecked, causing excess absorption.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Biochemistry question

What is the answer to this Biochemistry question?

The best answer is D, Inadequate hepcidin production leading to unrestrained ferroportin-mediated iron absorption. Most hereditary haemochromatosis results from homozygous HFE C282Y mutation, which reduces hepatic hepcidin synthesis.

Why is "Excess hepcidin blocking ferroportin and trapping iron in macrophages" not the answer?

Excess hepcidin occurs in anaemia of chronic disease and gives low serum iron.

Why is "Absent transferrin leading to unbound iron deposition" not the answer?

Atransferrinaemia causes iron-deficient erythropoiesis with iron overload in tissues but presents in childhood with anaemia.

Why is "Increased heme oxygenase activity releasing iron from red cells" not the answer?

Heme oxygenase activity is not the primary defect and does not raise transferrin saturation to this degree.

What concept does this question test?

It tests Iron metabolism: hereditary haemochromatosis in Biochemistry. With low hepcidin, ferroportin on enterocytes and macrophages remains active, so iron absorption and release are unrestrained and transferrin saturation rises. Iron deposits in liver, pancreas, heart, joints and skin; phlebotomy is the treatment.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Iron metabolism: hereditary haemochromatosis?

Build one table of enzyme deficiency, disease, inheritance and key finding, then revise it by spaced recall. Then use the flashcards and the other Biochemistry questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.