Haematology: hereditary haemochromatosis pathogenesis: practice question

A Pathology 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.

Try it

Pathology · Haematology: hereditary haemochromatosis pathogenesis

Sample item

A 45-year-old man homozygous for the C282Y variant of HFE has a ferritin of 2,500 ng/mL and transferrin saturation of 90 percent. Which mechanism explains his iron overload?

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

The answer and the reasoning

D. Inappropriately low hepcidin, causing excess intestinal iron absorption

HFE mutations impair hepatic hepcidin production. Low hepcidin leaves ferroportin active, so the intestine absorbs too much iron and releases it into plasma, which saturates transferrin and causes parenchymal deposition.

Option by option

  • A. Increased iron loss through the gut mucosa

    Iron is not actively excreted, and loss through mucosa is not increased in this disease.

  • B. Reduced transferrin synthesis by the liver

    Transferrin is normal to low but is not the cause, as saturation is high because of excess iron.

  • C. Increased hepcidin, causing iron trapping in macrophages

    High hepcidin would block iron export and produce the picture of anaemia of chronic disease.

  • D. Inappropriately low hepcidin, causing excess intestinal iron absorption (correct)

    Correct. Low hepcidin leaves ferroportin unchecked, increasing absorption and plasma iron.

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.

More Pathology questions

Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is D, Inappropriately low hepcidin, causing excess intestinal iron absorption. HFE mutations impair hepatic hepcidin production.

Why is "Increased iron loss through the gut mucosa" not the answer?

Iron is not actively excreted, and loss through mucosa is not increased in this disease.

Why is "Reduced transferrin synthesis by the liver" not the answer?

Transferrin is normal to low but is not the cause, as saturation is high because of excess iron.

Why is "Increased hepcidin, causing iron trapping in macrophages" not the answer?

High hepcidin would block iron export and produce the picture of anaemia of chronic disease.

What concept does this question test?

It tests Haematology: hereditary haemochromatosis pathogenesis in Pathology. Low hepcidin leaves ferroportin active, so the intestine absorbs too much iron and releases it into plasma, which saturates transferrin and causes parenchymal deposition.

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 Haematology: hereditary haemochromatosis pathogenesis?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology 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.