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 / Di Pierro, Elena; Russo, Roberta; Karakas, Zeynep; Brancaleoni, Valentina; Gambale, Antonella; Kurt, Ismail; Winter, Stuart S; Granata, Francesca; Rodriguez Czuchlewski, David; Langella, Concetta; Iolascon, Achille; Cappellini, Maria Domenica. - In: EUROPEAN JOURNAL OF HAEMATOLOGY. - ISSN 0902-4441. - 94:(2015), pp. 491-497. [10.1111/ejh.12452]

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

RUSSO, ROBERTA;IOLASCON, ACHILLE;
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.
2015
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis / Di Pierro, Elena; Russo, Roberta; Karakas, Zeynep; Brancaleoni, Valentina; Gambale, Antonella; Kurt, Ismail; Winter, Stuart S; Granata, Francesca; Rodriguez Czuchlewski, David; Langella, Concetta; Iolascon, Achille; Cappellini, Maria Domenica. - In: EUROPEAN JOURNAL OF HAEMATOLOGY. - ISSN 0902-4441. - 94:(2015), pp. 491-497. [10.1111/ejh.12452]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/590690
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