Sickle cell inheritance — MRCPCH TAS MCQ

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EasyGeneticsSickle cell inheritanceMRCPCH TAS

A newborn screen shows HbFS. The infant is clinically well and both parents have sickle cell trait. What is the most likely inheritance pattern?

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Correct answer: D — Autosomal recessive

Sickle cell disease is autosomal recessive, so two carrier parents can have an affected child. Autosomal dominant inheritance would be more likely to affect successive generations with one altered allele causing disease. The key point is that fetal haemoglobin may delay early symptoms despite the genotype.

Reference: Nelson Textbook of Pediatrics; UK newborn screening resources; RCPCH Theory examination syllabi