Haematology: beta thalassaemia major: 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: beta thalassaemia major

Sample item

An 8-month-old child has progressive pallor, hepatosplenomegaly and frontal bossing and needs regular transfusions. The smear shows severe microcytic hypochromic anaemia with target cells and nucleated red cells. What is the expected haemoglobin electrophoresis pattern?

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

The answer and the reasoning

B. Fetal haemoglobin predominant with little or no HbA

In beta thalassaemia major (beta-zero) there is no beta-globin synthesis, so HbA is absent or very low. Gamma-chain production continues, so HbF dominates, and unpaired alpha chains precipitate in red cell precursors causing ineffective erythropoiesis. Marrow expansion explains the bossing and the hair-on-end skull.

Option by option

  • A. HbA2 forming more than 90% of total haemoglobin

    HbA2 is raised in thalassaemia but never forms more than 90% of the haemoglobin.

  • B. Fetal haemoglobin predominant with little or no HbA (correct)

    Correct. Absent beta chains leave HbF as the main haemoglobin.

  • C. HbS predominant with fetal haemoglobin below 10%

    HbS predominance defines sickle cell anaemia and the smear would show sickle cells.

  • D. HbH and Hb Bart present with normal HbA2

    HbH and Hb Bart are products of excess beta or gamma chains in alpha thalassaemia, not beta thalassaemia.

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, Fetal haemoglobin predominant with little or no HbA. In beta thalassaemia major (beta-zero) there is no beta-globin synthesis, so HbA is absent or very low.

Why is "HbA2 forming more than 90% of total haemoglobin" not the answer?

HbA2 is raised in thalassaemia but never forms more than 90% of the haemoglobin.

Why is "HbS predominant with fetal haemoglobin below 10%" not the answer?

HbS predominance defines sickle cell anaemia and the smear would show sickle cells.

Why is "HbH and Hb Bart present with normal HbA2" not the answer?

HbH and Hb Bart are products of excess beta or gamma chains in alpha thalassaemia, not beta thalassaemia.

What concept does this question test?

It tests Haematology: beta thalassaemia major in Pathology. Gamma-chain production continues, so HbF dominates, and unpaired alpha chains precipitate in red cell precursors causing ineffective erythropoiesis. Marrow expansion explains the bossing and the hair-on-end skull.

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 Haematology: beta thalassaemia major?

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.