Literature DB >> 804794

Classical factor X deficiency. Report of a further case.

A Girolami, P Coser, A Brunetti, O Prinoth.   

Abstract

A case of classical factor X deficiency is reported. The propositus is a 28-year-old male who presented easy bruising, epistaxis, hematomas, hematuria and occasional hemartrosis since early childhood. The severely prolonged prothrombin time was corrected by normal serum but not by adsorbed normal plasma. The abnormality was not corrected by the plasma of a patient with factor X deficiency, but by the plasma of patients with factor II or VII deficiencies. Partial thromboplastin time, prothrombin consumption and the thromboplastin generation test were abnormal. The thromboelastogram showed a prolonged 'K' and 'r' together with a normal 'ma'. Factor X was very low (smaller than 1%). Platelet tests were normal. No factor X band or precipitates were seen on electroimmunoassay and on the cross-over electrophoresis. The non-consanguineous parents and several other members of the family were found to be heterozygotes.

Entities:  

Mesh:

Year:  1975        PMID: 804794     DOI: 10.1159/000208165

Source DB:  PubMed          Journal:  Acta Haematol        ISSN: 0001-5792            Impact factor:   2.195


  6 in total

1.  Immunohistochemical identification of factor X-like antigen in the A cells of the normal human pancreas.

Authors:  C Betterle; A Trevisan; A Girolami
Journal:  Diabetologia       Date:  1982-09       Impact factor: 10.122

2.  A family with heterozygous factor X Friuli defect outside Friuli.

Authors:  A Girolami; M Lazzarin; M Procidano; G Luzzatto
Journal:  Blut       Date:  1983-03

3.  A new family with classical factor X deficiency as demonstrated by electroimmunoassay.

Authors:  A Girolami; G Luzzatto; N Scattolo; F A Zanolli
Journal:  Blut       Date:  1983-07

4.  Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).

Authors:  G Marchetti; P Patracchini; D Gemmati; V DeRosa; M Pinotti; G Rodorigo; A Casonato; A Girolami; F Bernardi
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

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

Authors:  A Girolami; R Dal Bo Zanon; L De Marco; G Cappellato
Journal:  Blut       Date:  1980-04

6.  Incidence, significance, and subtypes of hemophilia BM in a large population of hemophilia B patients.

Authors:  A Girolami; R Dal Bo Zanon; P Saltarin; V Quaino; G Altinier; T Ripa; A Marchetti; D Stocco
Journal:  Blut       Date:  1982-01
  6 in total

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