Mahmoodi Mojtaba, Peyvandi Flora, Afrasiabi AbdolReza, Ghaffarpasand Fariborz, Karimi Mehran
Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Blood Coagul Fibrinolysis. 2011 Jul;22(5):396-401. doi: 10.1097/MBC.0b013e328345f566.
The objective of the present study was to investigate the prevalence of bleeding symptoms in individuals who are heterozygous for recessively inherited coagulation disorders (RICDs) and to determine the association of these bleeding symptoms with type of RICDs. This was a retrospective cross-sectional study being performed in Shiraz Hemophilia Society (Shiraz, Southern Iran). In this study, bleeding symptoms of the parents (heterozygous) of the patients (homozygous) who were registered and had definite diagnosis as autosomal recessive coagulation disorder were evaluated. These inherited disorders include factor I, V, VII, X, XI, XIII deficiency, combined factor VII and X deficiency, combined factor V and VIII deficiency, all platelet disorders and von Willebrand disease (VWD) type III. 50.3% individuals underwent genotype and mutation study to confirm their heterozygosity. We included 350 heterozygote individuals for inherited coagulation disorders among whom there were 175 (50%) men and 175 (50%) women. Those who were heterozygous for factor VII deficiency had significantly higher prevalence of subcutaneous hematoma (P=0.011). In the same way heterozygous patients for Bernard-Soulier syndrome had higher prevalence of hypermenorrhea (P=0.012) and obstetric (normal vaginal delivery or cesarean delivery) bleeding (P=0.012). Heterozygosity for factor X and XIII deficiency was associated with prolonged or massive bleeding during operations (P=0.001) and after minor traumas (P=0.019), respectively. Heterozygosity for RICDs is associated with some bleeding symptoms. Thus bleeding tendency and homeostasis disturbance should be kept in mind in those who are heterozygous for RICDs and more preoperative care and correction of coagulation indices is highly recommended.
本研究的目的是调查隐性遗传性凝血障碍（RICDs）杂合子个体的出血症状患病率，并确定这些出血症状与RICDs类型之间的关联。这是一项在设拉子血友病协会（伊朗南部设拉子）进行的回顾性横断面研究。在本研究中，对已登记并被明确诊断为常染色体隐性凝血障碍的患者（纯合子）的父母（杂合子）的出血症状进行了评估。这些遗传性疾病包括因子I、V、VII、X、XI、XIII缺乏症，联合因子VII和X缺乏症，联合因子V和VIII缺乏症，所有血小板疾病以及III型血管性血友病（VWD）。50.3%的个体接受了基因分型和突变研究以确认其杂合性。我们纳入了350名遗传性凝血障碍杂合子个体，其中男性175名（50%），女性175名（50%）。因子VII缺乏症杂合子个体的皮下血肿患病率显著更高（P = 0.011）。同样，伯纳德-索利尔综合征杂合子患者的月经过多（P = 0.012）和产科出血（正常阴道分娩或剖宫产）患病率更高（P = 0.012）。因子X和XIII缺乏症杂合性分别与手术期间（P = 0.001）和轻微创伤后（P = 0.019）的出血时间延长或大量出血有关。RICDs杂合性与一些出血症状有关。因此，对于RICDs杂合子个体应牢记出血倾向和内稳态紊乱，强烈建议进行更多的术前护理并纠正凝血指标。
