Results 241 to 250 of about 12,413,959 (307)

Haemophilia B: Christmas disease

Expert Opinion on Pharmacotherapy, 2005
Haemophilia B is an inherited bleeding disorder associated with a deficiency of coagulation factor IX. The hallmark of the severe phenotype is recurrent and spontaneous bleeding into joints, which can lead to joint deformity and arthritis at an early age.
openaire   +2 more sources

Haemophilia B Brandenberg‐type promoter mutation

Haemophilia, 1999
We report the second confirmed case of the haemophilia B `Brandenberg' phenotype. At the time of testing, patient HB530 was a 17‐year‐old post‐puberty male with a persistent, clinically severe bleeding disorder and markedly reduced plasma procoagulant factor IX activity (< 1%).
J A, Heit, R P, Ketterling, R E, Zapata, S M, Ordonez, C K, Kasper, S S, Sommer   +5 more
openaire   +2 more sources

Detection of Carriers of Haemophilia B

British Journal of Haematology, 1979
Summary. Plasma levels of factor IX activity and factor IX antigen were determined in 18 definite carriers of haemophilia B‐, 10 definite carriers of haemophilia B+ and 40 control subjects. Factor IX antigen was determined by the electroimmunoassay technique of Laurell using a rabbit antiserum against factor IX.
K H, Orstavik, J J, Veltkamp, R M, Bertina, J, Hermans   +3 more
openaire   +2 more sources

Factor VIII and IX Variants. Relationship between Haemophilia B_M and Haemophilia B+

European Journal of Clinical Investigation, 1971
Abstract. Haemophilia A and B can be divided into at least two groups which are different from the moderate and severe forms already known. Most patients have a true deficiency, lacking both coagulant and antigenic activities, while 10% of them display a reduced coagulant activity with antigenic determinants in common with normal factor VIII or IX ...
D, Meyer, M J, Larrieu, B, Obert
openaire   +2 more sources

The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees

Haemophilia, 2019
Sporadic haemophilia B (HB) without obvious familial history poses challenges for genetic diagnosis and counselling.
Yeling Lu, Xi Wu, J. Dai, Q. Ding, Wenman Wu, Xuefeng Wang   +5 more
semanticscholar   +1 more source

Gene therapy for haemophilia B

Haemophilia, 2012
Summary.  AAV virus mediated transfer of factor IX to humans is safe and effective at three dose levels. Two subjects treated at highest dose level developed immune mediated transaminitis which resolved on a short course of Prednisolone. Beneficial effects in terms of continuous elevation of factor IX level above base line was seen in all subjects ...
openaire   +2 more sources

Characterization of two large duplications of F9 associated with mild and severe haemophilia B, respectively

Haemophilia, 2019
Only two large duplications of F9 causing haemophilia B (HB) have been reported.
Xiaoling Xie, Changming Chen, Q. Liang, Xi Wu, Xuefeng Wang, Wenman Wu, Q. Ding   +6 more
semanticscholar   +1 more source

Substitution Therapy in Haemophilia B

Thrombosis and Haemostasis, 1961
Conclusions1. Substitution therapy in haemophilia B without daily control of the Factor IX level in vivo by means of a reliable Factor IX assay cannot be adequate.2. The level of the Factor IX activity which, in cases of haemophilia B, ensures safe haemostasis after major trauma or in major surgery is at least 25% of normal.3.
E. A Loeliger, A Hensen, M. J Mattern, E. E. J Alsbach   +3 more
openaire   +1 more source

Inhibitors in haemophilia B: the Italian experience

Haemophilia, 2013
SummaryThe prevalence of inhibitors in haemophilia B is significantly lower than that of patients with haemophilia A. However, the peculiar occurrence of allergic reactions associated with the onset of inhibitor in haemophilia B (HB) may render immune tolerance a risky procedure.
G, Castaman, E, Bonetti, M, Messina, M, Morfini, A, Rocino, F A, Scaraggi, G, Tagariello   +6 more
openaire   +2 more sources

RNA-Based Gene Therapy for Haemophilia B

Current Genomics, 2005
Haemophilia B, a deficiency in clotting factor IX (FIX), occurs in about I in 25.000 males. Of these patients, approximately 40% are characterized as having 'severe' haemophilia (FIX below 1% of normal). Although the use of plasma-derived or rFIX has extended the lifespan of these patients, they remain afflicted by a variety of sequelae of the disease.
Peppelenbosch, M. P., Milano, F., Ferreira, C. V., Knapinska, A., Diks, S. H., Spek, C. A.   +5 more
openaire   +3 more sources