نتایج جستجو برای: haemophilia

تعداد نتایج: 2327  

Journal: :Iranian journal of allergy, asthma, and immunology 2006
Hassan Mansouri Torghabeh Aliakbar Pourfathollah Mahmood Mahmoodian Shooshtari Zahra Rezaie Yazdi

Many investigations have proved relations between ABO blood groups with some diseases and factor VIII and von willebrand level in plasma. In this study we investigated a relation between ABO blood groups and factor VIII and IX inhibitors in 102 patients with haemophilia A and 48 patients with haemophilia B. The assay of inhibitor was done by Bethesda method. There were no relation between ABO b...

Journal: :Molecular pathology : MP 2002
D J Bowen

This review focuses on selected areas that should interest both the scientist and the clinician alike: polymorphisms within the factor VIII and factor IX genes, their linkage, and their ethnic variation; a general assessment of mutations within both genes and a detailed inspection of the molecular pathology of certain mutations to illustrate the diverse cause-effect relations that exist; a summ...

Journal: :British journal of haematology 2007
Leslie Raffini Catherine Manno

Currently available factor concentrates for treatment of patients with haemophilia are virally inactivated or are made by recombinant technology and their broad use in developed nations has resulted in the dramatic elimination of the treatment-related viral illnesses that decimated the haemophilia community in the late 20th century. The major morbidity experienced by patients with haemophilia t...

Journal: :British journal of haematology 2004
Alok Srivastava

The mainstay of the management of haemophilia is the replacement of clotting factors, using clotting factor concentrates (CFC) in a way that prevents bleeding and its complications. Beginning with small doses, as whole blood and plasma over 50 years ago, highly purified CFCs are now administered frequently in large doses to effectively treat this condition so that even people with severe haemop...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2004
K Steen Carlsson S Höjgård S Lethagen E Berntorp B Lindgren

The interest in economic evaluation of alternative strategies for haemophilia treatment has increased through the years. Few studies have actually been undertaken, however, and most of them have been simple cost-minimization or cost-effectiveness analyses. From the perspective of the binational project 'Treatment strategies for severe haemophilia-prophylaxis vs. on-demand', the present paper di...

Journal: :Thrombosis and haemostasis 2008
Paul E Monahan

The study of coagulation factors has been rapidly advanced by studies performed in genetically engineered mouse strains. Investigation of factor IX (FIX) has benefited from excellent gene-deleted mouse models that recapitulate many of the features of human haemophilia B. Moreover, advanced positional cloning techniques and availability of technology to allow not only knock-out mice, but also kn...

2011
Mehmet AKIN Deniz Yilmaz Kaan KAVAKLI

Von Willebrand disease and haemophilia A are the two most common inherited bleeding disorders. Despite the relatively high frequency of those two bleeding disorders in the general population, reports of their coexistence together or of combined coagulopathies in general are rare. We describe a 1-year-old male with confirmed mild haemophilia A co-existing with mild type 1 VWD. The 1year old male...

Journal: :Hamostaseologie 2009
D Lillicrap

The current treatment of haemophilia with coagulation protein replacement therapy is both effective and safe. Nevertheless, this therapy requires frequent, repeated intravenous infusions and approximately 25% of treated haemophilia A patients develop antibodies to the replacement protein. Furthermore, the cost and limited availability of current concentrates has restricted access to therapy to ...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2004
A C Nathwani A M Davidoff E G D Tuddenham

That gene therapy offers the promise of a cure for haemophilia was apparent more than a decade ago. After years of failure, substantial progress in the efficiency of gene transfer technology has recently resulted in impressive success in animal models with haemophilia. However, fears of the risks intrinsic to such therapy have been raised by the fate of two children cured of immune deficiency b...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2004
P Arranz E Remor M Quintana A Villar J L Díaz M Moreno J Monteagudo A Ugarriza I Soto R Pérez J Chacón M García-Luaces A Cid I Balda M F López M J Gutíerrez E Martínez C Marrero M Prieto C Sedano R Vaca C Altisent F Hernández-Navarro

A haemophilia-specific health-related quality-of-life questionnaire (named 'Hemofilia-QoL') was developed to assess quality-of-life in adults with haemophilia, and was psychometrically tested. Seventy-three interviews with haemophilia patients and health care professionals were used to generate the items included in the questionnaire, and expert ratings on the items formulated were used to scre...

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