Erythropoietic protoporphyria: Altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations

Maureen B. Poh-Fitzpatrick, Xiuhua Wang, Karl Anderson, Joseph R. Bloomer, Brian Bolwell, Alan Eli Lichtin

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)861-866
Number of pages6
JournalJournal of the American Academy of Dermatology
Issue number6
StatePublished - Jun 1 2002


ASJC Scopus subject areas

  • Dermatology

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