Results 281 to 290 of about 12,995,996 (318)

Haemophilia B Leyden in Greece

Thrombosis and Haemostasis, 1986
SummaryIn this paper, a five generation Greek family is described with haemophilia B. The disease is characterized by a normal ox-brain prothrombin time, normal levels of the vitamin-K dependent clotting factors VII and X and a proportional reduction of factor IX acttivity and antigen levels all of which is consistent with the cross-reacting material ...
T Mandalaki, E Briët, C Louizou, C Dimitriadou   +3 more
openaire   +3 more sources

Phenotypic characterization of haemophilia B – Understanding the underlying biology of coagulation factor IX

Haemophilia, 2019
Haemophilia B is a recessive, X‐linked bleeding disorder due to inherited deficiency in vitamin K‐dependent coagulation factor IX (FIX). FIX activity levels, as a basis for the definition of disease severity, do not clearly correlate with bleeding ...
A. Tjärnlund-Wolf, R. Lassila
semanticscholar   +1 more source

Subperiosteal Haemorrhage in Haemophilia A and B

Acta Paediatrica, 1961
SummaryDescription of two cases of extensive subperiosteal haematoma of the heel in a patient with haemophilia A and in a patient with haemophilia B. These haema‐tomata gave rise to extensive destruction of the calcaneus. Discussion of the means by which recovery was obtained.We are grateful to Dr. H. A. E.
S. Van Creveld, M. J. Kingma
openaire   +3 more sources

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   +3 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.
Rogier M. Bertina, J. J. Veltkamp, Karen Helene Ørstavik, Jo Hermans   +3 more
openaire   +3 more sources

Renal disorders in haemophilia A and B.

Scandinavian Journal of Haematology, 1977
Although haematuria is a relatively common symptom of hemophilia A and B, renal disease seemed to be a rarity and it has usually been held that this symptom was benign in nature. However detailed studies of renal function in a series of such patients using radiological and biochemical tests of renal function show significant differences compared to ...
F.R.C.P. Charles D. Forbes M.D., M.R.C.P. Colin R. M. Prentice M.A.   +1 more
openaire   +3 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

Haemophilia B in a Girl

Thrombosis and Haemostasis, 1962
SummaryA 6 year old girl with symptoms of severe haemophilia and a haemophilia B factor B content of 2%—3% of normal is described. Investigation of the family revealed that the mother and the sister of the girl were carriers of the haemophilia B gene, while the father was normal. Chromosome studies showed a pattern of 2 X chromosomes.
Inga Marie Nilsson, Jan‐Erik Niléhn
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

Haemophilia A and B

2012
Haemophilia A and B are hereditary, X-linked bleeding disorders caused, respectively, by deficiencies of coagulation factors FVIII and FIX. Haemophilia is among the most common hereditary human disorders; both haemophilia A and B have been identified in domestic animals and, as in humans, haemophilia A is the most common form.
openaire   +2 more sources