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Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18.

Abstract
We report a patient aged 73 years, who developed erythropoietic protoporphyria with typical photosensitivity, at the same time as she was diagnosed as having myelodysplastic syndrome. The myelodysplastic clone in her bone marrow completely lacked one of the two copies of chromosome 18. As chromosome 18 is the locus of the ferrochelatase gene, we postulate that this chromosomal deletion led to reduced synthesis of the enzyme in the bone marrow clone, so causing the porphyria. The nature of the remaining ferrochelatase allele was examined by polymorphism analysis and we discuss the insights that this patient's genotype may reveal about the pathogenesis of porphyria in myelodysplasia.
AuthorsR P E Sarkany, G Ross, F Willis
JournalThe British journal of dermatology (Br J Dermatol) Vol. 155 Issue 2 Pg. 464-6 (Aug 2006) ISSN: 0007-0963 [Print] England
PMID16882191 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Ferrochelatase
Topics
  • Aged
  • Chromosome Deletion
  • Chromosomes, Human, Pair 18 (genetics)
  • Female
  • Ferrochelatase (genetics)
  • Humans
  • Karyotyping
  • Myelodysplastic Syndromes (genetics, pathology)
  • Protoporphyria, Erythropoietic (genetics)

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