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.
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.