Factor VIII mutation and desmopressin-responsiveness in 62 patients with mild haemophilia A

Haemophilia ◽  
2013 ◽  
Vol 19 (5) ◽  
pp. 720-726 ◽  
Author(s):  
D. Nance ◽  
S. N. Fletcher ◽  
D. C. Bolgiano ◽  
A. R. Thompson ◽  
N. C. Josephson ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Mild Haemophilia

Management of Haemophilia in Sweden

1976 ◽  
Vol 35 (03) ◽  
pp. 510-521 ◽  
Author(s):  
Inga Marie Nilsson
Keyword(s):  
Factor Viii ◽  
Total Population ◽  
Age Groups ◽  
Factor Ix ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Haemophilia B ◽  
Human Fraction ◽  
Mild Haemophilia

SummaryThe incidence of living haemophiliacs in Sweden (total population 8.1 millions) is about 1:15,000 males and about 1:30,000 of the entire population. The number of haemophiliacs born in Sweden in 5-year periods between 1931-1975 (June) has remained almost unchanged. The total number of haemophilia families in Sweden is 284 (77% haemophilia A, 23% haemophilia B) with altogether 557 (436 with A and 121 with B) living haemophiliacs. Of the haemophilia A patients 40 % have severe, 18 % moderate, and 42 % mild, haemophilia. The distribution of the haemophilia B patients is about the same. Inhibitors have been demonstrated in 8% of the patients with severe haemophilia A and in 10% of those with severe haemophilia B.There are 2 main Haemophilia Centres (Stockholm, Malmo) to which haemophiliacs from the whole of Sweden are admitted for diagnosis, follow-up and treatment for severe bleedings, joint defects and surgery. Minor bleedings are treated at local hospitals in cooperation with the Haemophilia Centres. The concentrates available for treatment in haemophilia A are human fraction 1-0 (AHF-Kabi), cryoprecipitate, Antihaemophilic Factor (Hyland 4) and Kryobulin (Immuno, Wien). AHF-Kabi is the most commonly used preparation. The concentrates available for treatment in haemophilia B are Preconativ (Kabi) and Prothromplex (Immuno). Sufficient amounts of concentrates are available. In Sweden 3.2 million units of factor VIII and 1.0 million units of factor IX are given per year. Treatment is free of charge.Only 5 patients receive domiciliary treatment, but since 1958 we in Sweden have practised prophylactic treatment of boys (4–18 years old) with severe haemophilia A. At about 5-10 days interval they receive AHF in amounts sufficient to raise the AHF level to 40–50%. This regimen has reduced severe haemophilia to moderate. The joint score is identical with that found in moderate haemophilia in the same age groups. For treatment of patients with haemophilia A and haemophilia B complicated by inhibitors we have used a large dose of antigen (factor VIII or factor IX) combined with cyclophosphamide. In most cases this treatment produced satisfactory haemostasis for 5 to 30 days and prevented the secondary antibody rise.

Acute myocardial infarction during substitution with recombinant factor VIII concentrate in a patient with mild haemophilia A

2004 ◽  
Vol 92 (08) ◽  
pp. 425-426 ◽  
Author(s):  
Jean-Louis Kerkhoffs ◽  
Douwe Atsma ◽  
Pranobe Oemrawsingh ◽  
Jeroen Eikenboom ◽  
Felix Van der Meer
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Factor Viii ◽  
Recombinant Factor Viii ◽  
Haemophilia A ◽  
Mild Haemophilia

Current dosing practices for perioperative factor VIII concentrate treatment in mild haemophilia A patients result in FVIII levels above target

Haemophilia ◽  
2019 ◽  
Vol 25 (6) ◽  
pp. 960-968 ◽  
Author(s):  
Lisette M. Schütte ◽  
Nils Rooij ◽  
Hendrika C. A. M. Hazendonk ◽  
Ron A. A. Mathôt ◽  
Reinier M. Hest ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Concentrate Treatment ◽  
Mild Haemophilia

Variability of the factor VIII response to DDAVP in a large kindred with mild haemophilia A

Haemophilia ◽  
1997 ◽  
Vol 3 (4) ◽  
pp. 259-264 ◽  
Author(s):  
A. RavnsbAEk Jensen ◽  
J. Ingerslev ◽  
L. Knudsen ◽  
U. Fredberg ◽  
E. a Scheibel ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Mild Haemophilia

F VIII Inhibitors in Haemophilia A Patients after Continuous Infusion of Factor VIII Concentrates.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3100-3100
Author(s):  
Ch. von Auer ◽  
J. Oldenburg ◽  
M. von Depka ◽  
C. Escuriola-Ettinghausen ◽  
W. Kreuz ◽  
...  
Keyword(s):  
Factor Viii ◽  
Continuous Infusion ◽  
Orthopaedic Surgery ◽  
Coagulation Factor ◽  
Haemophilia A ◽  
Missense Mutations ◽  
Factor Viii Concentrates ◽  
Coagulation Factor Concentrates ◽  
Major Orthopaedic Surgery ◽  
Mild Haemophilia

Abstract Continuous infusion (CI) of coagulation factor concentrates has been used since the early 1990s. Recent reports of the occurrence of an inhibitor (inh) after CI have raised concerns about this method of treatment. We conduct a retrospective study to investigate the development of inh after CI of FVIII concentrates in Germany. 99 haemophilia treating physicians in Germany were contacted and asked to answer a questionnaire. So far data of 13 departments have been reported and analyzed. Three of these 13 centers never conducted a CI, in 5 no inh were detected and in 5 haemophilia centers 10 patients with inh development after CI were registered. 5 of these patients were suffering from severe, 1 from moderate and 4 from mild haemophilia (age between 7 months and 57 years). Indications for treatment were major bleeds and surgical procedures. Plasma derived (6) and recombinant (4) factor concentrates were given in various infusion sets. Data concerning infused amount (4300 to >100000 IE), exposure days (1 to >100) and inh characteristic (alloantibodies, 3 LR, 7 HR) were collected. Regarding the genotype, we found 4 missense-mutations, 2 intron-22-inversions, 1 small deletion, 3 were unknown. In our own center we found no inh in 81 patients with major orthopaedic surgery and bolus infusion of factor VIII concentrate compared to 2 inh in 8 patients with major orthopaedic surgery and CI of FVIII. In conclusion we found only in 2 patients the typical gene mutation for inh development. Strikingly the inh developed very often in patients with mild haemophilia. These findings agree with published results. There might be an uncommon inh-pathomechanism due to CI or patients with mild haemophilia might exhibit a much higher prevalence of inhibitor development when treated with an “intensive FVIII-treatment” such as CI.

scholarly journals The Effect of DDAVP Infusion on Thrombin Generation in Platelet-rich Plasma of von Willebrand Type 1 and in Mild Haemophilia A Patients

2000 ◽  
Vol 84 (10) ◽  
pp. 638-642 ◽  
Author(s):  
Irene Keularts ◽  
K. Hamulyak ◽  
H.C. Hemker ◽  
Suzette Béguin
Keyword(s):  
Factor Viii ◽  
Thrombin Generation ◽  
Platelet Rich Plasma ◽  
Von Willebrand Disease ◽  
Clotting Factor ◽  
Haemophilia A ◽  
The Individual ◽  
Von Willebrand ◽  
Mild Haemophilia

SummaryIn von Willebrand disease (vWD) type 1 and mild haemophilia A patients we studied the effect of an infusion of DDAVP (0.3 µg/kg body weight) on thrombin generation in platelet-rich plasma (PRP) and platelet-poor plasma (PPP). Baseline thrombin generation in PRP was diminished both in the haemophilia A and vWD patients. It was normal in vWD plasma when sufficient procoagulant phospholipids were present, either via adding phospholipid vesicles to PPP or via scrambling of the platelet membrane with ionomycin in PRP. In haemophilia A plasma, thrombin generation did not normalize by providing procoagulant phospholipids. Treatment with DDAVP temporarily restored thrombin generation in PRP to normal in both diseases.To investigate the individual roles of von Willebrand factor (vWF) and factor VIII, we also studied the effect of factor VIII infusion on thrombin generation in a severe haemophilia patient. It appears that at a fixed normal vWF concentration, <25% factor VIII is sufficient for normal thrombin generation in PRP. At a sufficient factor VIII concentration, however, thrombin generation is still lower than normal in vWD patients; ∼40% of vWF is required for half-normal thrombin generation in PRP.It thus appears that vWF is also a clotting factor, in the sense that it is required for normal thrombin generation. This underlines the importance of the interaction between coagulation and the platelets in normal haemostasis. Thrombin generation in PRP appears to be a suitable test to reflect the combined function.

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.

Discrepant factor VIII activity in a family with mild haemophilia A and Arg531His mutation using various FVIII assays and APTT reagents

Haemophilia ◽  
2005 ◽  
Vol 11 (5) ◽  
pp. 561-564 ◽  
Author(s):  
J. F. Lucia ◽  
C. Aguilar ◽  
M. Dobon ◽  
J. A. Aznar ◽  
E. Tizano ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Factor Viii Activity ◽  
Mild Haemophilia
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