Multiple choice

Which of the following statements is true?

  1. HbS is caused by a single base mutation on the beta-chain.

  2. Fluorescent probes may assist in the diagnosis of haemoglobinopathies.

  3. In thalassaemia, persistance of HbF is an adverse prognostic sign.

  4. In Alpha thalassaemia, there is a deficiency of beta-chain production.

Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

HbS (sickle cell hemoglobin) is caused by a single point mutation (glutamic acid to valine) at position 6 of the beta-chain. This is a well-established genetic fact. Option B is incorrect because fluorescent probes are not standard diagnostic tools for hemoglobinopathies. Option C is wrong because HbF persistence is actually protective in thalassemia, not adverse. Option D is incorrect because alpha thalassemia involves alpha-chain deficiency, not beta-chain.