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

Di Pierro E., Russo R., Karakas Z. , Brancaleoni V., Gambale A., Kurt I., ...Daha Fazla

EUROPEAN JOURNAL OF HAEMATOLOGY, cilt.94, sa.6, ss.491-497, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 94 Konu: 6
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1111/ejh.12452
  • Sayfa Sayıları: ss.491-497


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.