Sickle cell disease (SCD) is an autosomal recessive haemoglobinopathy caused by a single glutamic-acid-to-valine substitution at position 6 of beta-globin (Glu6Val, HBB on chromosome 11p15.5) producing haemoglobin S (HbS), which polymerises under deoxygenation into rigid fibres that distort the red cell into a sickle. Full topic, figures, and citations: https://medvellum.com/topics/sickle-cell-disease Chapters 00:00 The one-line answer 01:30 Meet the patient 02:21 Red flags 03:06 Genetics and classification — the genotype sets the severity 05:07 Pathophysiology — polymerisation, then three d…
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