Ibrahim Abukhiran, Judy Jasser, Sharathkumar Bhagavathi
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引用次数: 1
摘要
因子V Leiden (FVL)和因子II c *97G >突变是导致遗传性血栓病的两个最常见的遗传因素。由于极其罕见,过去人们认为两种变体的双纯合性与生命不一致。大约二十年前,仅报道了两例双纯合子静脉血栓患者。然而,据我们所知,还没有双纯合子个体出现复发性胎儿丢失而不是静脉血栓形成的报道。在这里,我们提出的情况下,36岁的女性谁提出了复发性早期妊娠流产没有发展静脉血栓栓塞。等位基因特异性聚合酶链反应检测显示FVL和因子II c均为双纯合模式。一个突变,这两个都被下一代DNA测序证实了。由于人口患病率低于千万分之一,双纯合子在静脉血栓栓塞或胎儿丢失风险中的实际增加尚不清楚。
Double-homozygosity for Factor V Leiden and Prothrombin c.*97G > A Mutation in a Young Female with Recurrent Fetal Losses and no Venous Thromboembolism
Factor V Leiden (FVL) and factor II c.*97G > A mutation are the two most common genetic factors predisposing to hereditary thrombophilia. Being extremely rare, it used to be thought that double homozygosity for both variants is inconsistent with life. Only two cases describing double-homozygous patients with venous thrombosis were reported about two decades ago. However, to the best of our knowledge, there has been no reported case of double-homozygous individuals presenting with recurrent fetal losses rather than venous thrombosis. Herein, we present the case of a 36-year-old female who presented with recurrent first trimester miscarriages without developing venous thromboembolism. Testing with allele-specific polymerase chain reaction showed double-homozygous pattern for both FVL and factor II c.*97G > A mutation, both of which were confirmed by next generation DNA sequencing. With a population prevalence of less than one per ten million individuals, double-homozygotes’ actual increase in risk for venous thromboembolism or fetal loss is unknown.