نتایج جستجو برای: haemophilia

تعداد نتایج: 2327  

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2010
J S Stonebraker P H B Bolton-Maggs J Michael Soucie I Walker M Brooker

The objectives of this paper were to study the reported haemophilia A prevalence (per 100 000 males) on a country-by-country basis and address the following: Does the reported prevalence of haemophilia A vary by national economies? We collected prevalence data for 106 countries from the World Federation of Hemophilia (WFH) annual global surveys and the literature. We found that the reported hae...

2014
Anita Kar Supriya Phadnis Sumedha Dharmarajan Juhi Nakade

India lacks a national policy on the prevention and control of genetic disorders. Although the haemoglobinopathies have received some attention, there are scarce data on the epidemiology of other genetic disorders in India. Haemophilia, an inherited single gene disorder with an incidence of 1 per 10,000 births, manifests as spontaneous or trauma-induced haemorrhagic episodes in patients, progre...

2016
Michael Wang María Teresa Álvarez-Román Pratima Chowdary Doris V. Quon Kim Schafer

The World Federation of Hemophilia and the National Hemophilia Foundation encourage people with haemophilia (PWH) to participate in routine physical activity. The benefits of physical activity for PWH include improvements in joint, bone, and muscle health. Accordingly, a number of studies suggest that levels of physical activity among PWH are similar to those of their healthy peers, especially ...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2008
B T Colvin J Astermark K Fischer A Gringeri R Lassila W Schramm A Thomas J Ingerslev

As the management of haemophilia is complex, it is essential that those with the disorder should have ready access to a range of services provided by a multidisciplinary team of specialists. This document sets out the principles of comprehensive haemophilia care in Europe. Within each country there should be a national organization which oversees the provision of specialist Comprehensive Care C...

Journal: :Journal of medical genetics 1995
P P Deutz-Terlouw M Losekoot R Olmer W C Pieneman S de Vries-v d Weerd E Briët E Bakker

Haemophilia A is an X linked bleeding disorder caused by a heterogeneous spectrum of mutations in the factor VIII gene. It has recently been reported that about 50% of severe haemophilia A cases are the result of an iversion in the factor VIII gene. The inversion results from homologous recombination between the A gene located in intron 22 of the FVIII gene and one of the two distal A genes, th...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2006
E Pollak H Mühlan S VON Mackensen M Bullinger

As quality of life (QoL) research is increasingly focusing on children and adolescents with haemophilia, the need for both age-appropriate and disease-specific assessment tools becomes apparent. Therefore, a set of questionnaires measuring QoL in children and adolescents with haemophilia was simultaneously developed in six languages within the European Haemo-QoL project (Haemophilia, 8, 2002, 4...

Journal: :JPMA. The Journal of the Pakistan Medical Association 1999
S Ahmed W Ali M Anwar Y Raashid T Jameel M Ayub T Zafar K A Karamat M Saleem

OBJECTIVE To determine the feasibility of a PCR based strategy for prenatal diagnosis of Haemophilia-A in Pakistani Families. DESIGN Prospective. SETTING Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi. SUBJECTS Five families with at least one child affected with Haemophilia-A. Each family comprised of father, mother, affected child and fetus when present. MAI...

1998
Ian Peake

Haemophilia A (factor VIII {FVIII} deficiency) and haemophilia B (factor IX {FIX} deficiency) are rare X-linked bleeding disorders occurring at an incidence of 1:5,000 and 1:25,000 males throughout the world. Treatment of these conditions by replacement therapy with plasma-derived FVIII or FIX concentrates has been established in the developed world since the mid 1970s, but has brought with it ...

Journal: : 2021

Recent therapeutic innovations are significantly changing the management of young children with severe haemophilia. A team from University Hospital Nice (06) introduced emicizumab, first subcutaneous non-replacement therapy. Integrated into multi-professional and their families, this innovative option has shown encouraging initial results. Experience sharing.

2009
Ikue Kobayashi Eiji Ishimura Kaname Hirowatari Takao Tsuchida Ayako Nishihira Hideaki Shima Kaori Shidara Katsuhito Mori Masaaki Inaba Ken-ichi Wakasa Yoshiki Nishizawa

A renal biopsy was performed in a 47-year-old man with haemophilia A. Thirty minutes after administration of an intravenous bolus of 4000 units of recombinant factor VIII, which increased the activity to 74-91%, a needle renal biopsy was successfully performed, followed by administration of 3000 units of factor VIII in the evening, and then the subsequent morning and evening. The patient was di...

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