Liver disease in late-onset protoporphyria caused by deletion of an FECH gene in hematopoietic cells. (A) Biochemical tests of liver function and plasma protoporphyrin concentrations during the final phase of the patient's illness. Plasma protoporphyrin (nM) (♦), plasma bilirubin (μM) (▴), plasma alkaline phosphatase (IU/L) (•), and plasma aspartate aminotransferase (IU/L) (▪) measurements are shown. (B) Denaturing HPLC tracings (only homodimer peaks are shown) of intron 3 amplicons from (i) DNA from the patient's unfractionated bone marrow, (ii) germ-line DNA from an FECH IVS3-48C/T heterozygote, and (iii) a mixture of T and C amplicons containing 25% T amplicon.