Haemophilia A with Apparently Autosomal Dominant Inheritance

1965 ◽  
Vol 14 (03/04) ◽  
pp. 341-345 ◽  
Author(s):  
A Hensen ◽  
M. J Mattern ◽  
E. A Loeliger
Keyword(s):  
Factor Viii ◽  
Gene Locus ◽  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Haemophilia A ◽  
Dominant Inheritance ◽  
Von Willebrand's Disease ◽  
Von Willebrand’S Disease ◽  
Autosomal Dominant Transmission

SummaryHaemophilia A with autosomal dominant transmission is presented. Von Willebrand’s disease could be excluded on the basis of normal bleeding times and a negative result from transfusion of haemophilic plasma into the propositus. Therefore, the existence of a third gene locus involved in factor VIII production must be seriously considered.

Studies on the Characterization of Factor VIII and a Co-factor VIII

1974 ◽  
Vol 31 (02) ◽  
pp. 328-338
Author(s):  
M. M. P Paulssen ◽  
H. L. M. A Vandenbussche-Scheffers ◽  
P. B Spaan ◽  
T de Jong ◽  
M. C Planje
Keyword(s):  
Molecular Weight ◽  
Factor Viii ◽  
The Body ◽  
Haemophilia A ◽  
Von Willebrand's Disease ◽  
Von Willebrand’S Disease ◽  
Polysaccharide Content ◽  
Plasma Factor ◽  
Two Factors

SummaryFactor VIII occurs in the body in two different forms. In lymph factor VIII is bound to chylomicra. In plasma, factor VIII is bound to a protein.After delipidation of chylomicra we obtained a glycoprotein with a high polysaccharide content and a molecular weight of approx. 160,000.In plasma, factor VIII is attached to a protein which is present in normal concentrations in plasma of patients with haemophilia A and in serum (co-factor VIII).This factor is deficient in both the plasma and the serum of patients with von Willebrand’s disease.The binding between factor VIII and co-factor VIII is reversible.Some properties of these two factors are described.

Factor VIII Antigen in the Vessel Walls in Von Willebrand's Disease and Haemophilia A

2009 ◽  
Vol 13 (1) ◽  
pp. 33-38 ◽  
Author(s):  
L. Holmberg ◽  
P. M. Mannucci ◽  
I. Turesson ◽  
Z. M. Ruggeri ◽  
I. M. Nilsson
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Von Willebrand's Disease ◽  
Von Willebrand’S Disease ◽  
Factor Viii Antigen ◽  
Vessel Walls

Immunoradiometric Assay for VIII:CAg BASED on Two Non-Haemophilic Antibodies

1979 ◽  
Author(s):  
L. Holmberg
Keyword(s):  
Factor Viii ◽  
Molecular Mechanisms ◽  
Limit Of Detection ◽  
Haemophilia A ◽  
Immunoradiometric Assay ◽  
Von Willebrand's Disease ◽  
High Molecular Weight Complex ◽  
Von Willebrand’S Disease ◽  
Fetal Plasma ◽  
Mild Haemophilia

Antihaemophilic-factor-A-antibodies, which had spontaneously arisen in two patients, were used to develop an imtiunoradiometric method for measurement of antihasnophilic factor A antigen (VIII:CAg). One of the antibodies was used for ooating plastic tubes. A seaond antibody formed a stable high molecular weight complex with a factor VIII-concentrate and could conveniently be isolated in labelled form. This antibody, which seated to be bound to only one immunologie site of VIII:CAg, was used for detecting the VIII. CAg fixed to the tubes by the first antibody.Thirteen patients with severe haancphilia A had VIII:CAg below the limit of detection (0.01 U/ml). Patients with moderate and mild haemophilia A either had VTII:CAg roughly equal to factor VIII clotting activity (VIII:C) or a not detectable VTII. CAg, suggesting two different molecular mechanisms in moderate and mild hasrophilia. VIII:CAg oould be detected in serum but in lower amounts than in plasma. In two patients with von Willebrand’s disease VIII:CAg equalled VIII.C. The post-transfusional retarded increase of VIII :C in a patient with von Willebrand’s disease was accompanied by a slight increase in VIII. CAg. Fetal plasma contained measurable amounts of VIII. CAo.

An Inhibitor to Factor VIII: C in a Patient with Possible Combined Haemophilia A and von Willebrand’s Disease

1986 ◽  
Vol 55 (02) ◽  
pp. 158-161
Author(s):  
L D Taylor ◽  
F L Dean ◽  
K Tiedemann ◽  
H Ekert
Keyword(s):  
Factor Viii ◽  
Factor Viii Inhibitor ◽  
Haemophilia A ◽  
Von Willebrand's Disease ◽  
Von Willebrand’S Disease ◽  
The Family ◽  
Unusual Combination ◽  
Laboratory Results ◽  
Viii Inhibitor

SummaryA factor VIII inhibitor has been found in a patient with an unusual combination of factor VIII-related properties. The inhibitor is directed specifically against the clotting activity (VIII :C) of the factor VIII complex. It behaves in a similar fashion to high responding inhibitors of factor VIII seen in haemophilia A patients and it was characterised as an immunoglobulin of the IgG class. Laboratory results from the patient and his family show considerable variation of factor VUI-related properties between various individuals. Overall, the data suggests the co-existence of haemophilia A and von Willebrand’s disease in the family and the presence of both diseases in the patient.

Familial Laryngeal Abductor Paralysis with Presumed Autosomal Dominant Inheritance

1982 ◽  
Vol 91 (3) ◽  
pp. 323-324 ◽  
Author(s):  
G. Morelli ◽  
C. Mesolella ◽  
F. Costa ◽  
B. Testa ◽  
V. Ventruto ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Autosomal Dominant Transmission ◽  
Abductor Paralysis

The etiology of Gerhardt's syndrome is uncertain. With the present work the authors present a hereditary form of this syndrome, which was found in three subsequent generations with autosomal dominant transmission.

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