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伴有因子VII缺乏的B型血友病:一种具有低因子VII活性和正常因子VII抗原的B型血友病独特变体。

Hemophilia B with associated factor VII deficiency: a distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen.

作者信息

Girolami A, Dal Bo Zanon R, De Marco L, Cappellato G

出版信息

Blut. 1980 Apr;40(4):267-73. doi: 10.1007/BF01080186.

DOI:10.1007/BF01080186
PMID:7370439
Abstract

Factor VII activity and cross-reacting material was assayed in fresh and deep frozen non-contacted plasma in 43 patients with Hemophilia B belonging to different kindreds. Factor VII activity was found to be slightly decreased (about of 50% normal) in 12 patients, regardless of the thromboplastin used. In an additional patient (hemophilia BM) factor VII was slightly decreased in 1 : 10 diluted plasma but was normal in further diluted plasma. In the remaining 30 patients factor VII activity was normal. No significant variation was found between fresh and deep frozen plasmas. Factor VII antigen or cross-reacting material was normal.

摘要

对43例来自不同家族的B型血友病患者的新鲜和深冻未接触血浆进行了因子VII活性和交叉反应物质检测。发现12例患者的因子VII活性略有降低(约为正常水平的50%),与所使用的凝血活酶无关。另有1例患者(BM型血友病),在1:10稀释血浆中因子VII略有降低,但在进一步稀释的血浆中则正常。其余30例患者的因子VII活性正常。新鲜血浆和深冻血浆之间未发现显著差异。因子VII抗原或交叉反应物质正常。

相似文献

1
Hemophilia B with associated factor VII deficiency: a distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen.伴有因子VII缺乏的B型血友病:一种具有低因子VII活性和正常因子VII抗原的B型血友病独特变体。
Blut. 1980 Apr;40(4):267-73. doi: 10.1007/BF01080186.
2
Hereditary factor VII and IX deficiencies in a large kindred.一个大家族中的遗传性因子VII和IX缺乏症
Br J Haematol. 1975 Feb;29(2):319-28. doi: 10.1111/j.1365-2141.1975.tb01826.x.
3
Factor VII activity and antigen in a patient with abnormal factor VII.
Clin Lab Haematol. 1988;10(2):159-65. doi: 10.1111/j.1365-2257.1988.tb01167.x.
4
An immunological investigation of hemophilia B with a tentative classification of the disease into five variants.乙型血友病的免疫学研究及该疾病的初步五型分类
Vox Sang. 1977;32(4):230-8. doi: 10.1111/j.1423-0410.1977.tb00635.x.
5
Factor VII deficiency: immunological characterization of genetic variants and detection of carriers.
Br J Haematol. 1981 May;48(1):7-14. doi: 10.1111/j.1365-2141.1981.00007.x.
6
Factor VII activity and antigen in haemophilia B variants.B型血友病变异体中的凝血因子VII活性与抗原
Thromb Haemost. 1980 Feb 29;43(1):16-9.
7
A CRM-Positive variant of factor-VII deficiency and the detection of heterozygotes with the assay of factor-like antigen.因子 VII 缺乏的 CRM 阳性变异体及通过因子样抗原检测法对杂合子的检测
Br J Haematol. 1977 May;36(1):127-35. doi: 10.1111/j.1365-2141.1977.tb05762.x.
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Factor VII Padua defect: the heterozygote population.凝血因子VII帕多瓦缺陷:杂合子群体。
Acta Haematol. 1982;68(1):34-8. doi: 10.1159/000206945.
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Electroimmunoassay of factor VII antigen.凝血因子VII抗原的免疫电泳测定法
Thromb Res. 1986 Jun 15;42(6):847-53. doi: 10.1016/0049-3848(86)90121-0.

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Congenital factor VII deficiency.
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3
Incidence, significance, and subtypes of hemophilia BM in a large population of hemophilia B patients.大量B型血友病患者中B型血友病携带者的发病率、意义及亚型
Blut. 1982 Jan;44(1):41-9. doi: 10.1007/BF00320685.

本文引用的文献

1
Hemophilia B associated with a decreased factor VII activity.与因子VII活性降低相关的血友病B。
Am J Med Sci. 1962 Jan;243:20-6. doi: 10.1097/00000441-196201000-00003.
2
Factor-VII deficiency with Christmas disease in one family.一个家族中存在因子 VII 缺乏合并克里斯马斯病的情况。
Lancet. 1959 Jun 6;1(7084):1173-6. doi: 10.1016/s0140-6736(59)91184-5.
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Combined mild PTC (plasma thromboplastin component) and factor VII deficiencies.合并轻度血浆凝血活酶成分(PTC)和凝血因子VII缺乏症。
4
Studies on a family with the factor VII defect.关于因子VII缺陷家族的研究。
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4
Christmas disease associated with factor VII deficiency; case report with family survey.与凝血因子VII缺乏相关的克里斯马斯病;病例报告及家系调查
Br Med J. 1955 Feb 5;1(4909):330-1. doi: 10.1136/bmj.1.4909.330.
5
Studies regarding the effect of foreign-surface contact on the one-stage prothrombin time determination.关于异物表面接触对一期凝血酶原时间测定影响的研究。
Thromb Diath Haemorrh. 1966 May 15;15(3):442-50.
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Hemophilia BM.血友病B型。
Can Med Assoc J. 1968 Mar 16;98(11):552-4.
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Another genetic variant of haemophilia B: haemophilia B Leyden.血友病B的另一种基因变异型:莱顿型血友病B。
Scand J Haematol. 1970;7(2):82-90. doi: 10.1111/j.1600-0609.1970.tb01873.x.
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The genetic heterogeneity of hemophilia B.乙型血友病的遗传异质性。
N Engl J Med. 1970 Jul 9;283(2):61-4. doi: 10.1056/NEJM197007092830203.
9
An investigation of three patients with Christmas disease due to an abnormal type of factor IX.对三名因异常类型的凝血因子IX导致患克里斯马斯病的患者进行的调查。
J Clin Pathol. 1968 Mar;21(2):160-5. doi: 10.1136/jcp.21.2.160.
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Congenital combined factor V and factor VIII deficiency in a male born from a brother-sister incest.
Blut. 1974 Jan;28(1):33-42. doi: 10.1007/BF01630657.