A case of factor X (FX) deficiency due to novel mutation V196M, FX Hofu

被引：3

作者：

Shinohara, Kenji ^{[1
]}

Adachi, Mayumi ^{[1
]}

Matsui, Kumiko ^{[1
]}

Matsuda, Kazuhiro ^{[1
]}

Nagaya, Satomi ^{[2
]}

Morishita, Eriko ^{[2
]}

机构：

[1] Yamaguchi Prefectural Med Ctr, Dept Med, Div Hematol, Hofu, Japan

[2] Kanazawa Univ, Grad Sch Med Sci, Sch Hlth Sci, Dept Lab Sci, Kanazawa, Ishikawa 920, Japan

来源：

INTERNATIONAL JOURNAL OF HEMATOLOGY | 2008年 / 87卷 / 03期

关键词：

factor X deficiency; missense mutation; gene analysis;

D O I：

10.1007/s12185-008-0035-1

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The patient, a 20-year-old male, was found to have a slightly prolonged prothrombin time (PT). No episodes of bleeding were noted. The measurement of coagulation factors revealed that the level of factor X (FX) activity was solely deficient, 51% (normal range: 70-130% ), and that of FX antigen was 100%. Analysis of the entire FX gene revealed the novel missense mutation of (G) under bar TG to (A) under bar TG, resulting in the substitution of the 196th amino acid valine --> methionine. The mother and younger brother had a normal PT time and expressed no episode of bleeding. The mother exhibited a normal level of FX activity and antigen; however the younger brother showed a slight decrease in both the parameters. This mutation was not observed in the mother and younger brother. Polymorphism is not observed at this point in healthy persons. The present novel FX mutation was named FX Hofu.

引用

页码：256 / 259

页数：4

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