A novel deletion involving exon 13 of factor VIII gene in a newborn with splenic hematoma

Transfusion and Apheresis Science - Tập 59 - Trang 102562 - 2020
Dilek Gurlek Gokcebay1, Sibel Akpinar Tekgunduz1, Dilek Sarici2, Selma Uysal Ramadan3, Busranur Cavdarli4
1Department of Pediatric Hematology, University of Health Sciences Kecioren Training and Research Hospital, Turkey
2Department of Neonatology, University of Health Sciences Kecioren Training and Research Hospital, Turkey
3Department of Radiology, University of Health Sciences Kecioren Training and Research Hospital, Turkey
4Department of Medical Genetics, University of Health Sciences Ankara Numune Training and Research Hospital, Turkey

Tài liệu tham khảo

Johnson-Robins, 1999, Splenic rupture in a newborn with hemophilia A: case report and review of the literature, Clin Pediatr, 38, 117, 10.1177/000992289903800210 Tengsupakul, 2010, Splenic rupture in a newborn with severe hemophilia—case report and review, Pediatr Hematol Oncol, 32, 323, 10.1097/MPH.0b013e3181d640ae Badawy, 2017, Successful medical management of a neonate with spontaneous splenic rupture and severe hemophilia A, Hematol Oncol Stem Cell Ther, 10, 29, 10.1016/j.hemonc.2016.04.001 Perdomo, 2003, Splenic injury presenting with isolated scrotal findings in a stable newborn, J Pediatr Surg, 38, 1673, 10.1016/S0022-3468(03)00581-5 Ljung, 1990, Diagnostic symptoms of severe and moderate haemophilia A and B. A survey of 140 cases, Acta Pediatr Scand, 79, 196, 10.1111/j.1651-2227.1990.tb11438.x Giordano, 2003, Conservative management of a large subcapsular hematoma of the spleen in a child with severe hemophilia, J Pediatr Hematol Oncol, 25, 920, 10.1097/00043426-200311000-00022 Iannaccone, 1981, Calcifying splenic hematoma in a hemophilic newborn, Pediatr Radiol, 10, 183, 10.1007/BF00975198 Adamu, 2012, Splenic rupture and intracranial haemorrhage in a haemophilic neonate: case report and literature review, Afr J Paediatr Surg, 9, 163, 10.4103/0189-6725.99408 Santacroce, 2008, Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A, J Hum Genet, 53, 275, 10.1007/s10038-007-0238-y Citron, 2002, High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation, Hum Mutat, 20, 267, 10.1002/humu.10119