Diagnosis and Treatment of a Bleeding Diathesis Causing Hematoma of Sigmoid

PEDIATRICS ◽  
1972 ◽  
Vol 49 (2) ◽  
pp. 316-316
Author(s):  
William E. Hathaway
Keyword(s):  
Partial Thromboplastin Time ◽  
Normal Values ◽  
Factor X ◽  
Bleeding Diathesis ◽  
Platelet Adhesiveness ◽  
Normal Limits ◽  
Factor X Deficiency ◽  
Definite Factor ◽  
Severe Degree ◽  
Generation Test

Several discrepancies in the description of the coagulation data presented in the article by Schiller and others1 are apparent. A patient with "definite" Factor X deficiency of a clinically severe degree should have an abnormal prothrombin time and thromboplastin generation test. The authors report these tests to be within normal limits. Also, a platelet adhesiveness of 74% is hardly "slightly reduced" by most published normal values which range from 20 to 80%. In addition, if "A.P.T.T." means "a partial thromboplastin time," then this test should also be abnormal.

Severe Congenital Factor X Deficiency in 5-Month-Old Child

1970 ◽  
Vol 24 (01/02) ◽  
pp. 175-184 ◽  
Author(s):  
A Girolami ◽  
G Molaro ◽  
A Calligaris ◽  
G De Luca
Keyword(s):  
Normal Serum ◽  
Factor Vii ◽  
Brain Hemorrhage ◽  
Factor X ◽  
Clotting Factors ◽  
Normal Limits ◽  
Factor X Deficiency ◽  
Normal Plasma ◽  
Generation Test ◽  
Congenital Factor

SummaryA case of severe congenital factor X deficiency is presented. The patient was a 5 month old child who had several episodes of melena since the first weeks of life. Other bleeding manifestations were subcutaneous hematomas and a massive brain hemorrhage. The prothrombin time was severely prolonged and was corrected by normal serum, aged normal plasma and by the plasma of patients with parahemophilia, congenital hypoprothrombinemia and factor VII deficiency. On the contrary adsorbed normal plasma and Mr. Stuart’s plasma failed to correct the abnormality.The partial thromboplastin time, prothrombin consumption and the thromboplastin generation test were abnormal too. The T.G.T. was corrected by the substitution of the patient’s serum with normal serum. The factor X level was less then 0.1% of normal. All other clotting factors were within normal limits.Both parents of the “propositus” showed slightly decreased levels of factor X in their plasmas and were considered to be heterozygotes for the defect.

Novel factor X deficiency. Normal partial thromboplastin time and associated spindle cell thymoma

1985 ◽  
Vol 79 (1) ◽  
pp. 122-126 ◽  
Author(s):  
Richard E. Nora ◽  
William R. Bell ◽  
Dennis A. Noe ◽  
Pam W. Sholar
Keyword(s):  
Partial Thromboplastin Time ◽  
Spindle Cell ◽  
Factor X ◽  
Factor X Deficiency

Six novel missense mutations causing factor X deficiency and application of thrombin generation test

2013 ◽  
Vol 131 (6) ◽  
pp. 554-559 ◽  
Author(s):  
Qian Liang ◽  
Qiong Chen ◽  
Qiulan Ding ◽  
Fang Wu ◽  
Xuefeng Wang ◽  
...  
Keyword(s):  
Thrombin Generation ◽  
Missense Mutations ◽  
Factor X ◽  
Factor X Deficiency ◽  
Generation Test

Immunological Studies on the Blood Coagulation Factor X and Its Warfarin-induced Precursor

1974 ◽  
Vol 31 (01) ◽  
pp. 040-051 ◽  
Author(s):  
Gustav Gaudernack ◽  
Åse Gladhaug Berre ◽  
Bjarne Østerud ◽  
Hans Prydz
Keyword(s):  
Coagulation Factor ◽  
Factor X ◽  
Intrinsic Pathway ◽  
Coagulation Activity ◽  
Factor X Deficiency ◽  
Warfarin Treatment ◽  
The Cross ◽  
Monospecific Antisera ◽  
Purified Antigen ◽  
Congenital Factor

SummaryMonospecific antisera against the human coagulation factor X have been raised in rabbits by injections of purified antigen. Such antiserum was used to study the cross-reacting material without factor X activity which is present in the blood of warfarin-treated patients and animals as well as to study the changes in factor X during coagulation. One patient with congenital factor X deficiency was also studied.A complete identity was found between factor X in Macaca mulatta and human blood. During warfarin treatment antigenically cross-reacting material appeared in plasma. This was not adsorbed on BaSO4, and inhibited the coagulation activity of normal factor X.Both this material, normal factor X and the cross-reacting material in plasma from a patient congenitally deficient in factor X gave rise to split products during coagulation by the intrinsic pathway, i. e. all of them served as substrates for the intrinsic activator of factor X.

Spontaneous Haemophilia in a Female

1960 ◽  
Vol 04 (03) ◽  
pp. 369-375 ◽  
Author(s):  
E. H Braun ◽  
David B. Stollar
Keyword(s):  
Family History ◽  
Bleeding Time ◽  
Dental Extraction ◽  
White Girl ◽  
Complete Family ◽  
Normal Limits ◽  
Sex Chromatin ◽  
History Of ◽  
Generation Test

SummaryA case of haemophilia in a young white girl is described. There was a history of bleeding from birth. The thromboplastin generation test was grossly abnormal and A. H. G. levels were below 1%. Bleeding time and capillary morphology was within normal limits. Dental extraction after transfusion caused almost uncontrollable haemorrhage.A complete family history was obtained for four generations. There was no case of a “bleeder” amongst these.The girl’s apparent sex was confirmed by sex chromatin studies.

The Spectrum of von Willebrand’s Disease

1967 ◽  
Vol 18 (01/02) ◽  
pp. 040-056 ◽  
Author(s):  
E. J Walter Bowie ◽  
P Didisheim ◽  
J. H Thompson ◽  
C. A Owen
Keyword(s):  
Factor Viii ◽  
Bleeding Time ◽  
Severe Bleeding ◽  
Platelet Adhesiveness ◽  
Platelet Activity ◽  
Von Willebrand's Disease ◽  
Von Willebrand’S Disease ◽  
The Third ◽  
Generation Test

SummaryPatients (from 5 kindreds) with variants of von Willebrand’s disease are described. In one kindred the depression of factor VIII was moderate (20 to 40% of normal) and transfusion of 500 ml of normal plasma led to an increase higher than anticipated and to an almost normal level of factor VIII 17 to 24 hrs later. This represents the usual type of von Willebrand’s disease.In the second kindred the concentration of factor VIII was less than 2 % of normal in the son and daughter, who had severe bleeding and hemarthroses.The third kindred was characterized by reduction of factor VIII and a long bleeding time as well as by a serum defect in the thromboplastin-generation test comparable to that seen in patients with hemophilia B, yet with normal levels of factors IX, X, and VII. The severity of the serum defect, the positive result with the Rumpel-Leede test, and the reduced platelet activity in the thromboplastin-generation test are all compatible with the diagnosis of thrombopathy or ‘‘thrombopathic hemophilia.” In two other kindreds, one patient had a long bleeding time and normal levels of factor VIII and another had a normal bleeding time and decrease of factor VIII. The last patient had the type of response to transfusion usually seen in von Willebrand’s disease.In four kindreds, platelet adhesiveness in vivo was found to be strikingly abnormal (virtually absent).It would appear, therefore, that von Willebrand’s disease forms a spectrum, and whether the kindreds reported simply reflect variations of a single genetic disease state or represent separate entities will be answered only by clarification of the underlying etiology of that disease.

Rôle of Thrombin in Prothrombin Activation

1964 ◽  
Vol 12 (02) ◽  
pp. 484-488
Author(s):  
W. H Seegers ◽  
H Schröer ◽  
D Heene
Keyword(s):  
Partial Thromboplastin Time ◽  
Procoagulant Activity ◽  
Autoprothrombin C ◽  
Generation Test ◽  
Prothrombin Activation

SummaryThe partial thromboplastin time and purified thrombin were used to demonstrate the procoagulant power of thrombin. Only 0.007 μg of thrombin could be detected in prothrombin activation. Traces of thrombin and autoprothrombin C can fully account for the generation of procoagulant activity in the thromboplastin generation test. Inactivation of these two activities by antithrombin explains the disappearance of the procoagulant power in that test, so that there now remains no valid demonstration of the existence of plasma thromboplastin or of anti-plasma thromboplastin.

Factor X Deficiency Due to a Compound Heterozygosis Between a New Mutation (Gla72Asp) in Exon 2 and an Already Known one (Gly154Arg) in Exon 5: Factor X Mar Del Plata1)

2019 ◽  
Vol 19 (2) ◽  
pp. 169-173
Author(s):  
Antonio Girolami ◽  
Diana Noemi Garcia de Paoletti ◽  
Marcelo Leonardo Nenkies ◽  
Silvia Ferrari ◽  
Hugo Guglielmone
Keyword(s):  
Bleeding Tendency ◽  
Bleeding Disorders ◽  
Factor X ◽  
Substitution Therapy ◽  
New Mutation ◽  
Exon 2 ◽  
The Third ◽  
The Past ◽  
Factor X Deficiency ◽  
The Family

Background: Investigation of rare bleeding disorders in Latin-America. Objective: The report of a new case of FX deficiency due to a compound heterozygosis. Methods: Accepted clotting procedures were used. Sequencing of DNA was carried out by means of Applied Biosystems Instruments. Results: A compound heterozygote due to the association of a new mutation (Gla72Asp) with an already known mutation (Gly154Arg) of the FX gene is reported. The proposita is a 38 year old female who had a moderate bleeding tendency (menorrhagia, epistaxis, easy bruising). The proposita has never received substitution therapy but in the occasion of a uterine biopsy. The mother was asymptomatic but was a heterozygote for the new mutation. The father was asymptomatic but had deserted the family and could not be investigated. After this abandonment the mother of the proposita re-married with an asymptomatic man and she gave birth to a son who was asymptomatic but was also heterozygous for the new mutation (Gla72Asp). As a consequence it has to be assumed that the first husband of the mother of the proposita was heterozygous for the known mutation (Gly154Arg). Conclusion: This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina.

Sign in / Sign up

Export Citation Format

Share Document