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Flashcards in Diseases Deck (2)
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Sickle cell disease

Genetic mutation on the short arm of chromosome 11 causing the substitution of a valine for a glutamate in the beta subunit of human Hb. This causes abnormal protein folding into "sickle" shape.


Creutzfeldt-Jakob disease

Prion disease caused by abnormal protein folding into ß-sheets and subsequent aggregation of these sheets into Heinz bodies. Neurodegenerative disease, giving the affected tissue a spongy appearance. Clinical presentation as quickly progressing dementia.