Peyvandi F, Mannucci P M, Jenkins P V, Lee A, Coppola R, Perry D J
Haemophilia Centre, Department of Haematology, Royal Free & University College Medical School, Royal Free Campus, London, UK.
Thromb Haemost. 2000 Oct;84(4):635-7.
We report the case of a 5-year-old boy with severe factor VII deficiency. The affected child presented at the age of 8 months and again at 18 months with bleeding from the gastrointestinal tract but the diagnosis of factor VII deficiency was not made until the age of 3 years. He was treated with fresh frozen plasma and subsequently factor VII concentrates and to date remains well. To identify the causative mutation, the factor VII gene was screened by SSCP and direct sequence analysis. A single homozygous 2 bp deletion (-CT) mutation was identified in exon 1a removing nucleotides 27/28 (codons 52/53). Both parents, who were first cousins, were heterozygous for the mutation. The mutation located in the prepropeptide of factor VII, results in a complete absence of factor VII in plasma. This case indicates that a complete absence of plasma factor VII is not necessarily a lethal condition.
我们报告了一例患有严重凝血因子VII缺乏症的5岁男孩的病例。该患病儿童在8个月大时首次出现症状，18个月大时再次出现胃肠道出血症状，但直到3岁时才确诊为凝血因子VII缺乏症。他接受了新鲜冷冻血浆治疗，随后使用了凝血因子VII浓缩剂，至今情况良好。为了确定致病突变，通过单链构象多态性（SSCP）和直接序列分析对凝血因子VII基因进行了筛查。在外显子1a中鉴定出一个纯合的2碱基缺失（-CT）突变，该突变去除了核苷酸27/28（密码子52/53）。父母双方是近亲，均为该突变的杂合子。该突变位于凝血因子VII的前肽中，导致血浆中完全缺乏凝血因子VII。该病例表明，血浆中完全缺乏凝血因子VII不一定是致命的情况。
