Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.
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.
Poh-Fitzpatrick
Maureen B
MB
Department of Dermatology, Columbia University College of Physicians and Surgeons, New York, New York, USA.
Wang
Xiuhua
X
Anderson
Karl E
KE
Bloomer
Joseph R
JR
Bolwell
Brian
B
Lichtin
Alan Eli
AE
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
D017931:DNA Primers; D011166:Porphyrins; D011524:Protoporphyrins; D005294:Ferrochelatase