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

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.

• Authors: Elena Di Pierro, Roberta Russo, Zeynep Karakas, Valentina Brancaleoni, Antonella Gambale, Ismail Kurt, S Stuart Winter, Francesca Granata, David Rodriguez Czuchlewski, Concetta Langella, Achille Iolascon, Maria Domenica Cappellini
• Journal: European journal of haematology (Eur J Haematol) Vol. 94 Issue 6 Pg. 491-7 (Jun 2015) ISSN: 1600-0609 [Electronic] England
• PMID: 25251786 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Chemical References

• GATA1 Transcription Factor
• Porphyrins

Topics

• 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, genetics)
• Porphyrins (blood, urine)