OBJECTIVE To determine the frequency of factor VIII specific inhibitors in haemophilia A. STUDY DESIGN Cross-sectional study. PLACE AND DURATION OF STUDY National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, from August 2007 to March 2009. METHODOLOGY Venous blood samples of diagnosed haemophilia A patients were collected in tubes containing 0.109 M (3.2%) trisodiu...

Haemophilia A is an X-linked bleeding disorder caused by a wide range of mutations in the factor VIII (F8) gene . About one third [1] of cases are due to a mutation. The majority are thought to occur in a single germ cell but some, occurring during early de novo embryogenesis, produce a germline and/or somatic mosaic. In haemophilia, somatic mosaicism has been generally observed in women and se...

Prophylactic treatment of haemophilia has been gaining acceptance as the optimal therapeutic option in an increasing number of haemophilia centres in the developed world in recent years. This paper focus on three aspects of prophylactic therapy: when to start treatment, venous access and the dose/dose interval. Evidence is in favour of prophylactic treatment to be started at an early age using ...

New Zealand Maoris (72 X chromosomes) have been compared with Pacific Island Polynesians (121 X chromosomes) and Caucasian New Zealanders (51 X chromosomes) as a control group to determine the allelic frequency of six RFLPs associated with the genes for two X linked diseases (haemophilia A and haemophilia B). RFLPs examined were BclI, XbaI, and BglI within the factor VIII gene, the factor VIII ...

INTRODUCTION Haemophilia is a bleeding disorder associated with significant pain, emotional distress, quality of life (QoL) impairment and considerable healthcare costs. Psychosocial health and effective pain management are considered essential end points for optimal haemophilia care, but there is a significant gap in evidence-based treatments targeting these outcomes in people with haemophilia...

The Pan-Thames Haemophilia Consortium was established to provide coherent regional planning of haemophilia services. The Expert Advisory Group is a clinical reference point for the consortium and was established to consider specifically elective high cost treatment programmes. An audit of the first year of consortium activity demonstrated that patients receiving high cost therapy represented 1....

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...

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 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...