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Results for “Factor XII Deficiency”

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PubMed2003

Molecular characterization of coagulation factor XII deficiency in a Japanese family.

We report the identification in a Japanese family of a novel homozygous W486C mutation in the protease domain of coagulation factor XII (FXII), which was associated with the reduction of plasma FXII activity and antigen level to less than 5% of normal. Sequences of each exon for FXII gene was analysed in family members by polymerase chain reaction (PCR) amplification followed by a direct sequencing method. Sequence analysis showed a homozygous substitution of G to C at nucleotide position 10587 (cDNA position 1458) in proband's FXII gene, resulting in a Trp to Cys substitution in the catalytic domain of FXII. PCR-fragment length polymorphism analysis of 55 healthy volunteers showed no such mutation. Transient expression of FXII in HK-293T cells and analysis of FXII antigen in culture media and cell lysates showed reduced secretion of mutant protein by more than 84% relative to that of wild type protein although the intracellular contents were similar. Our results suggest that the reduced secretion of FXII protein was due to incorrect folding caused by the introduction of Cys486. We designated this mutation as FXII Mie-1.

Amino Acid Substitution↗
PubMed1983

Arterial and venous thrombosis and normal response to streptokinase treatment in a young patient with severe Hageman factor deficiency.

The case history of a patient with severe factor XII deficiency (factor XII activity and concentration below 1%) is described. The case reported gives further evidence that factor XII deficiency leads to a prolonged euglobulin lysis time. This might be a risk factor indicating a proneness to thromboembolic events. The young man suffered from arterial and venous thrombosis, and underwent lower extremity amputation without bleeding complications, as well as thrombolytic therapy to save the other leg. There was a normal response to streptokinase, heparin, and phenprocoumon treatment.

Adult↗
PubMed1975

A new family with congenital factor XII deficiency.

The case of a patient with Hageman trait and his family study are reported. Commercial plasma thromboplastin time (PTT) reagents showed a good sensitivity for detecting the plasma defect. By prolonging the incubation time of the mixture containing PTT reagent and factor XII-deficient plasma the abnormal coagulation times were not corrected. Thus, a concomitant Fletcher factor deficiency could be excluded.

Blood Coagulation Disorders↗
PubMed1979

[Factor XII deficiency - Hageman trait. Additional diagnostic procedures].

In the previous paper published in the Bulletin for Hematology and Blood Transfusion we described the congenital deficit of Hageman factor (HF) with the basic findings. Now we provide addilioval laboratory -diagnostical tests in order to confirm definitively that our patients have the deficit of Factor XII, and not of some other factors of the contact coagulation phase as: Fletcher, Fitzgerald, Williams and Flaujeac. On the other hand, in order to enlight the laboratory-diagnostical problems which one can face in solving of these cases, we have reviewed the basic biochemical characteristics of the contact factors and the mechanism of the beginning of the internal pathway of blood coagulation.

Factor IX↗
PubMed1985

[Congenital factor XII deficiency: a rare cause of increased activated cephalin time].

The fortuitous detection of an increased activated cephalin clotting time is often dependent on defects of the blood-clotting factors synthesized by the liver, haemophilia or von Willebrand's disease, circulating anticoagulants or specific deficiencies of various factors necessary for blood-clotting mechanisms. Much more rarely, it may be due to an isolated Hageman factor defect. This deficiency does not lead to an increased bleeding tendency and surgery has proved surprisingly uneventful. On the other hand, thromboembolic events may appear. Being and inherited disease with autosomal recessive transmission, the discovery of Hageman factor deficiency must lead to a complete family investigation.

Adult↗
PubMed1979

Molecular heterogeneity of Hageman trait (factor XII deficiency): evidence that two of 49 subjects are cross-reacting material positive (CRM+).

We have studied plasmas of 49 individuals with homozygous Hageman trait from 42 kindreds, all of which contained less than 1% of the Hageman factor (factor XII) clotting activity of pooled normal plasmas. Forty-seven plasmas contained less than 1% of Hageman factor antigen. In two other, unrelated individuals with Hageman trait, nonfunctional material immunologically indistinguishable from normal Hageman factor was detected in plasma by radioimmunoassay at concentrations of 39% and 80%, respectively. These plasmas did not contain circulating anticoagulants against Hageman factor and, as in ordinary Hageman trait, displayed impaired surface-mediated plasma reactions such as fibrinolysis and kinin generation. Upon immunodiffusion against anti-Hageman factor serum, these plasmas formed a single precipitin line of complete identity with normal plasma or purified Hageman factor. Upon immunoelectrophoresis, the precipitin line had the same mobility as normal Hageman factor. Nonfunctional Hageman factor and normal Hageman factor behaved identically on a Sephadex G-150 column (apparent MW = 100,000) and on sucrose density-gradient centrifugation (4.5S). Nonfunctional Hageman factor was adsorbed to kaolin as readily as normal Hageman factor, suggesting that the binding site to negatively charged surfaces is different from functional sites. Antiserum raised against Hageman factor-like material in a CRM+ Hageman trait plasma specifically inactivated Hageman factor activity in normal plasma. The plasmas of three heterozygotes in these families contained approximately twice as much Hageman factor antigen as Hageman factor activity, whereas those of 16 heterozygotes in ordinary (CRM-) Hageman trait families contained approximately equal amounts of activity and antigen. The present study indicates that rarely homozygous Hageman trait may be CRM+ and that this defect is genetically determined.

Cross Reactions↗