Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis

Eur J Haematol. 2015 Jun;94(6):491-7. doi: 10.1111/ejh.12452. Epub 2014 Oct 25.

Abstract

Congenital erythropoietic porphyria (CEP) is a rare genetic disease that is characterized by a severe cutaneous photosensitivity causing unrecoverable deformities, chronic hemolytic anemia requiring blood transfusion program, and by fatal systemic complications. A correct and early diagnosis is required to develop a management plan that is appropriate to the patient's needs. Recently only one case of X-linked CEP had been reported, describing the trans-acting GATA1-R216W mutation. Here, we have characterized two novel X-linked CEP patients, both with misleading hematological phenotypes that include dyserythropoietic anemia, thrombocytopenia, and hereditary persistence of fetal hemoglobin. We compare the previously reported case to ours and propose a diagnostic paradigm for this variant of CEP. Finally, a correlation between phenotype variability and the presence of modifier mutations in loci related to disease-causing gene is described.

Keywords: UROS, GATA1, and SEC23B mutations; congenital erythropoietic porphyria; neonatal hemolytic anemia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution*
  • Biopsy
  • Bone Marrow / pathology
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Erythrocyte Indices
  • GATA1 Transcription Factor / genetics*
  • Genes, X-Linked
  • Genetic Association Studies*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Porphyria, Erythropoietic / diagnosis*
  • Porphyria, Erythropoietic / genetics*
  • Porphyrins / blood
  • Porphyrins / urine

Substances

  • GATA1 Transcription Factor
  • Porphyrins