Di Pierro Elena, Russo Roberta, Karakas Zeynep, Brancaleoni Valentina, Gambale Antonella, Kurt Ismail, Winter S Stuart, Granata Francesca, Czuchlewski David Rodriguez, Langella Concetta, Iolascon Achille, Cappellini Maria Domenica
Fondazione IRCCS "Cà-Granda" Ospedale Maggiore Policlinico, U.O. di Medicina Interna, Milan, Italy.
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy.
Eur J Haematol. 2015 Jun;94(6):491-7. doi: 10.1111/ejh.12452. Epub 2014 Oct 25.
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.
先天性红细胞生成性卟啉病（CEP）是一种罕见的遗传性疾病，其特征为严重的皮肤光敏感性，可导致无法恢复的畸形、需要输血治疗的慢性溶血性贫血以及致命的全身并发症。需要进行正确的早期诊断，以制定适合患者需求的管理计划。最近仅报道了一例X连锁CEP病例，描述了反式作用的GATA1-R216W突变。在此，我们对两名新型X连锁CEP患者进行了特征描述，这两名患者均具有误导性的血液学表型，包括异常红细胞生成性贫血、血小板减少症和胎儿血红蛋白遗传性持续存在。我们将先前报道的病例与我们的病例进行比较，并提出了这种CEP变体的诊断范式。最后，描述了表型变异性与致病基因相关位点修饰突变存在之间的相关性。
