Ivaskevicius Vytautas, Seitz Rainer, Kohler Hans P, Schroeder Verena, Muszbek Laszlo, Ariens Robert A S, Seifried Erhard, Oldenburg Johannes
Institute of Experimental Haematology and Transfusion Medicine, University of Bonn, 53127 Bonn, German.
Thromb Haemost. 2007 Jun;97(6):914-21.
FXIII deficiency is known as one of the rarest blood coagulation disorders. In this study, the phenotypic and in part genotypic data of 104 FXIII-deficient patients recorded from 1993 - 2005 are presented. The most common bleeding symptoms were subcutaneous bleeding (57%) followed by delayed umbilical cord bleeding (56%), muscle hematoma (49%), hemorrhage after surgery (40%), hemarthrosis (36%), and intracerebral bleeding (34%). Prophylactic treatment was initiated in about 70% of all patients. FXIII-B subunit-deficient patients had a milder phenotype than patients with FXIII-A subunit deficiency. The most frequent mutation affecting the F13A gene was a splice site mutation in intron 5 (IVS5-1G>A). This mutation was found in eight (17%) of 46 analyzed families. The haplotype analysis of patients carrying the IVS5-1A allele was consistent with a founder effect. The international registry (http://www.f13-database.de) will provide clinicians and scientists working on FXIII deficiency with a helpful tool to improve patient care and direct future studies towards better understanding and treatment of the disease.
因子 XIII 缺乏症是已知最罕见的血液凝固障碍之一。本研究展示了1993年至2005年记录的104例因子 XIII 缺乏症患者的表型数据及部分基因型数据。最常见的出血症状为皮下出血（57%），其次是脐带延迟出血（56%）、肌肉血肿（49%）、术后出血（40%）、关节积血（36%）和脑出血（34%）。约70%的患者开始了预防性治疗。因子 XIII - B 亚基缺乏症患者的表型比因子 XIII - A 亚基缺乏症患者更轻。影响 F13A 基因最常见的突变是内含子5中的剪接位点突变（IVS5 - 1G>A）。在46个分析的家族中有8个（17%）发现了这种突变。携带 IVS5 - 1A 等位基因患者的单倍型分析与奠基者效应一致。国际登记处（http://www.f13 - database.de）将为研究因子 XIII 缺乏症的临床医生和科学家提供一个有用的工具，以改善患者护理，并指导未来的研究更好地理解和治疗该疾病。
