Q63: Haematology: PLAB/UK(MLA)/AKT Exam style question
A 4-year-old boy from a Middle Eastern family presents with recurrent episodes of jaundice and fatigue. His parents report no other symptoms such as fever, pain, or poor feeding. He had a recent history of treatment with a course of ciprofloxacin for an ear infection. Blood tests show low haemoglobin, normal white blood cell count, and normal platelet count with elevated reticulocytes. What is the most likely diagnosis?
A. Sickle cell disease
B. Beta-thalassaemia major
C. Acute lymphoblastic leukaemia
D. Pyruvate kinase deficiency
E. Glucose-6-phosphate dehydrogenase deficiency
Explanation
The correct answer is E. Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency).
G6PD deficiency is a genetic disorder that affects the production of an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is important for the protection of red blood cells against oxidative stress. In individuals with G6PD deficiency, certain drugs and infections can trigger an episode of hemolysis, leading to red blood cell destruction and anemia.
Ciprofloxacin, a commonly used antibiotic, is known to cause hemolysis in individuals with G6PD deficiency. Other drugs such as anti-malarials and sulphonamide-containing drugs can also cause hemolysis in these individuals. The diagnosis of G6PD deficiency can be confirmed by a blood test measuring the enzyme activity.
It is important to note that G6PD deficiency is more common in individuals from certain ethnic backgrounds, including those from the Mediterranean and African regions. It is an X-linked recessive disorder, meaning it is usually passed down from mothers to their sons.
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Reference:
Glucose-6-phosphate dehydrogenase deficiency - Genetics Home Reference - NIH: This is a webpage from the US National Library of Medicine that provides information on the genetics, symptoms, diagnosis, and treatment of G6PD deficiency. It also explains how G6PD deficiency is inherited and how it affects different populations.
G6PD deficiency | Practical Neurology: This is a review article that provides a practical guide to diagnosing and managing G6PD deficiency. It explains the pathophysiology, epidemiology, clinical features, differential diagnosis, investigations, and management of G6PD deficiency.
Guide to G6PD deficiency rapid diagnostic testing to support P. vivax radical cure: This is a guide from the World Health Organization that provides general information on G6PD deficiency and its relation to malaria treatment. It also provides instructions on how to conduct point-of-care testing for G6PD deficiency using rapid diagnostic tests (RDTs) as part of malaria control and elimination programmes.
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