A family is described in which the mother is a haemophilia carrier, the father has asymptomatic type IIA von Willebrand's disease, and their second son has simultaneously inherited both severe haemophilia and type IIA von Willebrand's disease. This is the first report of both diseases occurring simultaneously. The inheritance patterns and laboratory data on the family are presented and discussed.

Haemophilia is an inherited disorder of the body's blood clotting mechanism. Past treatments have led to the transmission of blood-borne viruses, primarily HIV and hepatitis C. Current clotting factor concentrates and treatment regimes offer patients a good quality of life. Specialist haemophilia nurses play a pivotal role in the organisation and delivery of care to this patient group.

The mutations of 76 haemophilia B patients representing the whole population registered with the Malmö haemophilia centre (42) and referrals from the UK, were characterised. RFLP haplotype analysis of the defective genes indicated that 51 single base pair substitutions were definitely of independent origin and 27 of these were CpG----TpG or CpA transitions. This represents a 38-fold excess over...

Inhibitor development continues to be a major problem in the treatment of haemophilia. Immune tolerance induction (ITI) continues to be the most effective approach to managing this complication. This study reviews the practice and outcome of ITI at a single centre over a 17-year period. All 31 inhibitor patients have haemophilia A. Two patients with haemophilia A underwent two trials of ITI and...

Haemophilia is a heredity disorder in which bleeding is due to deficiency of coagulation factor VIII. Haemophilia A is the second most common inherited coagulation disorder. Estimation of its incidence ranges from 1 in 20,000 to as high as 1 in 10,000 people. It is a classic example of x-linked recessive trait (1). The frequency and severity generally are related to the blood level of factor VI...

INTRODUCTION Management of haemophilia and inherited bleeding disorders is a major challenge especially in developing countries, because of a shortage or absence of products, the cost and the infrastructural health problems. Development of local expertise which results in an improved outlook and reduction in mortality and morbidity in these countries can be helpful for advocators in other devel...

In comparison with other biotechnology substitutions, the adoption of recombinant Factor VIII (rFVIII) has been relatively slow. We sent a postal questionnaire to all Dutch haemophilia patients and haemophilia-treating physicians, to determine which factors predict whether a patient uses plasma-derived FVIII (pdFVIII) or rFVIII and to investigate patients' and doctors' opinions on both products...

Musculoskeletal dysfunction is a common feature of haemophilia and along with other manifestations of this condition, there is a general perception that health-related quality of life (QoL) will be affected. Previous research using standardized questionnaires has demonstrated that QoL is lower in haemophilia groups compared with normal populations. However, disability studies and interviews wit...

BACKGROUND Children with haemophilia have lower levels of fitness and strength than their healthy peers. We present the protocol of a study designed to determine whether an exercise intervention improves quality of life, aerobic fitness and strength in children with haemophilia. METHODS/DESIGN The study will be a randomised, assessor-blinded, controlled trial of exercise treatment. Seventy ch...

BACKGROUND Although it is widely appreciated that vigorous physical activity can increase the risk of bleeding episodes in children with haemophilia, the magnitude of the increase in risk is not known. Accurate risk estimates could inform decisions made by children with haemophilia and their parents about participation in physical activity and aid the development of optimal prophylactic schedul...