title: Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.
abstract: Acute myelogenous leukemia occurred in a 47-year-old woman whose 25-year history of cutaneous photosensitivity had been undiagnosed until abnormally high erythrocyte, plasma, and fecal protoporphyrin levels were discovered during evaluation for her hematologic disorder. She was found to be heteroallelic for ferrochelatase gene mutations, bearing a novel missense mutation caused by a C185-->G (Pro62-->Arg) transversion in exon 2 of one allele, and a previously described g-->a transition at the +5 position of the exon 1 donor site of the other allele, confirming a diagnosis of erythropoietic protoporphyria. Successful bone marrow transplantation from her brother, who is a mildly affected bearer of the second mutation, resulted in remission of the leukemia and in conversion of the protoporphyria phenotype of the recipient to one resembling that of the donor.
authors.affiliation: Department of Dermatology, Columbia University College of Physicians and Surgeons, New York, New York, USA.
authors.forename: Maureen B
authors.initials: MB
authors.lastname: Poh-Fitzpatrick
authors.forename: Xiuhua
authors.initials: X
authors.lastname: Wang
authors.forename: Karl E
authors.initials: KE
authors.lastname: Anderson
authors.forename: Joseph R
authors.initials: JR
authors.lastname: Bloomer
authors.forename: Brian
authors.initials: B
authors.lastname: Bolwell
authors.forename: Alan Eli
authors.initials: AE
authors.lastname: Lichtin
mesh_terms: D016026:Bone Marrow Transplantation; D017931:DNA Primers; D005260:Female; D005294:Ferrochelatase / Q000235:genetics*; D006801:Humans; D015479:Leukemia, Myelomonocytic, Acute / Q000150:complications / Q000628:therapy*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017121:Porphyria, Hepatoerythropoietic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D011166:Porphyrins / Q000097:blood / Q000378:metabolism / Q000652:urine; D011524:Protoporphyrins / Q000097:blood / Q000378:metabolism / Q000652:urine
chemical_list: D017931:DNA Primers; D011166:Porphyrins; D011524:Protoporphyrins; D005294:Ferrochelatase