Severe bleeding in a woman heterozygous for the fibrinogen gammaR275C mutation.
Severe bleeding in a woman heterozygous for the fibrinogen gammaR275C mutation.
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DOI：
10.1097/mbc.0b013e3283393c7c
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发表时间：
2010-07
期刊：
影响因子：
--
通讯作者：
Farrell DH
中科院分区：
文献类型：
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作者：
Rein CM;Anderson BL;Ballard MM;Domes CM;Johnston JM;Madsen RJ Jr;Wolper KK;Terker AS;Strother JM;Deloughery TG;Farrell DH
纤维蛋白原γR275C可以是一种临床上沉默的突变，在文献中只有17例病例中有2例报告了出血性表现，4例报告了血栓表现。我们在此描述一位54岁女性患者，因月经大出血在47岁时需行子宫切除术，其临床表现特别严重。凝血试验显示凝血酶原时间和凝血酶时间延长，纤维蛋白原抗原水平正常，纤维蛋白原活性水平低。对患者DNA的分子分析显示，γ链基因突变导致第275位氨基酸替换(γR275C)。纤维蛋白原γ链的蛋白质序列分析证实了该突变，将其命名为纤维蛋白原波特兰I。该病例表明γR275C突变可导致严重出血表型。
The dysfibrinogen γR275C can be a clinically silent mutation, with only two out of seventeen cases in the literature reporting a hemorrhagic presentation, and four cases reporting a thrombotic presentation. We describe here a particularly severe presentation in 54-year-old female patient who required a hysterectomy at 47 years of age due to heavy menstrual bleeding. Coagulation studies revealed a prolonged prothrombin time and thrombin time, a normal fibrinogen antigen level, and a low fibrinogen activity level. Molecular analysis of the patient’s DNA revealed a γ chain gene mutation resulting in an amino acid substitution at residue 275 (γR275C). Protein sequencing of the fibrinogen γ chain confirmed this mutation, which was named Fibrinogen Portland I. This case demonstrates that the γR275C mutation can lead to a severe hemorrhagic phenotype.