In patients with haemophilia A knowledge of the pathogenetic mutation is important i) as basis for carrier diagnosis and ii) for risk estimation of inhibitor formation. The pathogenetic mutations were identified by testing inversions in intron 1 and 22 (IVS22 and IVS1) and sequencing part of the promoter, the coding region and the exon/intron boundaries in a cohort of Austrian haemophilia A pat...

Haemophilia A severity is closely correlated to the factor VIII (FVIII) activity, which can be measured in different ways. The original one-stage clotting assay is still the most widely used. The two-stage coagulation assay eliminated many of the drawbacks of the one-stage assay and was further developed into the chromogenic assay, a two-staged test with purified coagulation factors in the firs...

The demand for blood products containing factor VIII for treating patients with haemophilia A in south-east Scotland was reviewed. From 1961 to 1975 the demand for fresh frozen plasma (FFP), cryoprecipitate (CP), and antihaemophilic factor (AHF) increased by seven and a half times, while total donations increased by only a third. Patients with severe haemophilia A treated at the regional haemop...

A five year survey of the treatment of patients in the United Kingdom suffering from haemophilia and related disorders was carried out on behalf of the directors of haemophilia centres. The survey showed an increase in the number of patients receiving treatment from the centres, a substantial increase in the total amount of therapeutic materials used, and an increase in the average amount of fa...

Acquired haemophilia A is a serious and potentially fatal bleeding disorder. Diagnosis is difficult and maybe delayed due to its rarity. The high mortality rate and the complex nature of treatment necessitate patient management at a haemophilia centre, where the required expertise and resources are available. Prompt diagnosis is crucial and early initiation of therapy could be life saving. Mana...

Current treatment regimens for haematological autoimmune diseases are relatively non-selective and are often associated with considerable toxicity. Recently, it has become clear that B cells play a key role in both the development and perpetuation of autoimmunity, suggesting that B-cell depletion could be a valuable treatment approach for patients with autoimmune diseases. This article reviews ...

Haemophilia is a congenital coagulation disorder characterized by uncontrolled haemorrhagic episodes that are crippling and potentially life-threatening. Haemophilia A results from subnormal levels of an essential cofactor protein, factor VIII (F.VIII), and affects 1 in every 10,000 males; haemophilia B is associated with a lack of an essential protease, factor IX (F.IX), and occurs in 1 out of...

A case of pseudotumour of the left ankle in a twenty year old Malay with severe Haemophilia A, who defaulted treatment for one year, and another in the left gluteal region in a thirty eight year old Chinese with severe Haemophilia A are reported. Both cases which developed complications of pseudotumours, demonstrate the importance of early and adequate treatment of muscle bleeds in haemophiliacs.

A guide for the dental management of the three inherited bleeding disorders, von Willebrand's disease, haemophilia A and haemophilia B, was established jointly by the Institute of Medical and Veterinary Science Transfusion and Haemostasis Unit in conjunction with the Medically Compromised Dental Unit at the Adelaide Dental Hospital. This protocol was subjected to a successful trial for 24 months.

As a result of safer blood products and more effective treatments for human immunodeficiency virus (HIV) and hepatitis C infection (HCV), the life expectancy of those with haemophilia is approaching that of the general population. This was predicted over 20 years ago by Dutch epidemiologists who assessed the mortality of haemophilic men, after controlling for HIV and HCV infections (1). Thus, i...