Haematology: Diamond-Blackfan anaemia: 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.

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Pathology · Haematology: Diamond-Blackfan anaemia

Sample item

A 3-month-old girl has pallor, macrocytic anaemia and a very low reticulocyte count. White cells and platelets are normal. She has a triphalangeal thumb, and marrow shows almost no erythroid precursors. Mutations in which group of genes are most commonly responsible?

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

The answer and the reasoning

B. Ribosomal protein genes

Diamond-Blackfan anaemia is a congenital pure red cell aplasia, often with craniofacial or thumb anomalies, due to haploinsufficiency of ribosomal protein genes such as RPS19. Fanconi anaemia, by contrast, affects all lineages.

Option by option

  • A. Beta-globin genes

    Beta-globin mutations cause thalassaemia with ineffective erythropoiesis and a hyperplastic marrow.

  • B. Ribosomal protein genes (correct)

    Correct. Ribosomal protein gene mutations cause failure of erythroid progenitors with normal other lineages.

  • C. FANC DNA repair genes

    FANC mutations cause Fanconi anaemia with progressive pancytopenia and chromosome breakage.

  • D. Spectrin and ankyrin genes

    Spectrin and ankyrin defects cause spherocytic haemolysis with a high reticulocyte count.

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 Pathology question

What is the answer to this Pathology question?

The best answer is B, Ribosomal protein genes. Diamond-Blackfan anaemia is a congenital pure red cell aplasia, often with craniofacial or thumb anomalies, due to haploinsufficiency of ribosomal protein genes such as RPS19.

Why is "Beta-globin genes" not the answer?

Beta-globin mutations cause thalassaemia with ineffective erythropoiesis and a hyperplastic marrow.

Why is "FANC DNA repair genes" not the answer?

FANC mutations cause Fanconi anaemia with progressive pancytopenia and chromosome breakage.

Why is "Spectrin and ankyrin genes" not the answer?

Spectrin and ankyrin defects cause spherocytic haemolysis with a high reticulocyte count.

What concept does this question test?

It tests Haematology: Diamond-Blackfan anaemia in Pathology. Fanconi anaemia, by contrast, affects all lineages.

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: Diamond-Blackfan anaemia?

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.