Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.
Eur J Haematol
; 94(6): 491-7, 2015 Jun.
Article
em En
| MEDLINE
| ID: mdl-25251786
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.
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MEDLINE
Assunto principal:
Porfiria Eritropoética
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Substituição de Aminoácidos
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Fator de Transcrição GATA1
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Estudos de Associação Genética
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Mutação
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article