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.

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis / E. Di Pierro, R. Russo, Z. Karakas, V. Brancaleoni, A. Gambale, I. Kurt, S.S. Winter, F. Granata, D.R. Czuchlewski, C. Langella, A. Iolascon, M.D. Cappellini. - In: EUROPEAN JOURNAL OF HAEMATOLOGY. - ISSN 0902-4441. - 94:6(2015 Jun), pp. 491-497. [10.1111/ejh.12452]

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

E. Di Pierro
;
V. Brancaleoni;F. Granata;M.D. Cappellini
Ultimo
2015

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.
congenital erythropoietic porphyria; UROS; GATA1; and SEC23B mutations; neonatal hemolytic anemia
Settore MED/09 - Medicina Interna
24-ott-2014
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/247182
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