Minerals: 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 · Minerals: hereditary haemochromatosis

Sample item

A 45-year-old man has bronze skin pigmentation, diabetes mellitus, arthropathy of the second and third metacarpophalangeal joints and hepatomegaly. Transferrin saturation is 85% and serum ferritin is 2200 ng/mL. What is the underlying pathophysiology?

ADefective ATP7B-mediated copper excretionBDeficient synthesis of transferrinCInterleukin-6-driven hepcidin excessDInappropriately low hepcidin with unregulated intestinal iron absorption

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

The answer and the reasoning

D. Inappropriately low hepcidin with unregulated intestinal iron absorption

In HFE-related haemochromatosis, hepcidin production is inadequate for the body iron load. Ferroportin on enterocytes and macrophages therefore stays active, so absorption continues and iron is deposited in liver, pancreas, heart, joints and skin. High transferrin saturation is the earliest biochemical marker.

Option by option

A. Defective ATP7B-mediated copper excretion
ATP7B defect causes Wilson disease, which involves copper and a low ceruloplasmin.
B. Deficient synthesis of transferrin
Atransferrinaemia gives iron deficiency in the circulation with deposition, and transferrin saturation is not high.
C. Interleukin-6-driven hepcidin excess
Raised hepcidin from IL-6 occurs in anaemia of chronic disease and lowers iron availability.
D. Inappropriately low hepcidin with unregulated intestinal iron absorption (correct)
Low hepcidin leaves ferroportin active, so iron continues to be absorbed despite overload.

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.

Questions about this Biochemistry question

What is the answer to this Biochemistry question?

The best answer is D, Inappropriately low hepcidin with unregulated intestinal iron absorption. In HFE-related haemochromatosis, hepcidin production is inadequate for the body iron load.

Why is "Defective ATP7B-mediated copper excretion" not the answer?

ATP7B defect causes Wilson disease, which involves copper and a low ceruloplasmin.

Why is "Deficient synthesis of transferrin" not the answer?

Atransferrinaemia gives iron deficiency in the circulation with deposition, and transferrin saturation is not high.

Why is "Interleukin-6-driven hepcidin excess" not the answer?

Raised hepcidin from IL-6 occurs in anaemia of chronic disease and lowers iron availability.

What concept does this question test?

It tests Minerals: hereditary haemochromatosis in Biochemistry. Ferroportin on enterocytes and macrophages therefore stays active, so absorption continues and iron is deposited in liver, pancreas, heart, joints and skin. High transferrin saturation is the earliest biochemical marker.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. 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 Minerals: 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.