Haematology · NEET PG Preparation Pathology
A 24-year-old female presents with fatigue and jaundice. Peripheral blood smear reveals spherocytes and polychromasia. Osmotic fragility is increased…
Practice question from Haematology (NEET PG Preparation Pathology), with the correct answer and a step-by-step solution.
medium · MCQ · Q-6CAD2C
A 24-year-old female presents with fatigue and jaundice. Peripheral blood smear reveals spherocytes and polychromasia. Osmotic fragility is increased, and the direct Coombs test (DAT) is negative. Which of the following is the most likely underlying molecular defect?
- A.Mutation in the HBB gene
- B.Deficiency of glucose-6-phosphate dehydrogenase
- C.Deficiency or abnormality of spectrin or ankyrinCorrect answer
- D.Mutation in the PIGA gene
Solution
The clinical presentation (spherocytes, negative DAT, increased osmotic fragility) is classic for hereditary spherocytosis. This condition is most commonly caused by mutations in genes encoding red blood cell membrane skeletal proteins, primarily spectrin and ankyrin.
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