13.00-14.30 Introduction to the meeting Global haemophilia care: what can be learned from emerging countries? Chairs: J. Astermark (SE), P. de Moerloose (CH) Low-dose replacement and prophylaxis in emerging countries A. Srivastava (IN) Cross-border care: heterogeneity of haemophilia care between countries and its consequences on patients’ management C. Hermans (CH) How can wealthy countries hel...

This is a case of a 36-year-old gentleman with haemophilia A who was presented with an acute atraumatic soft tissue swelling in the right thigh. Open biopsy was performed with the resultant diagnosis of a synovial cell sarcoma. Although the clinical findings were nonspecific they could easily have been found in a bleeding haemophilic pseudotumour. The findings reported on MRI scan initially wer...

In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the...

Haemophilia B is an X-linked recessive bleeding disorder, arising from a deficiency of coagulation factor IX. It has been a target for gene therapy ever since the factor IX gene was cloned in 1982. Several distinct approaches have been evaluated in humans over the last 30 years, but none has resulted in tangible corrections of the bleeding phenotype in humans until recently. Our group has now s...

TAFI (thrombin activatable fibrinolysis inhibitor) down regulates fibrinolysis after activation by relatively high concentrations of thrombin generated during coagulation via thrombin mediated factor XI activation and subsequent activation of the intrinsic pathway. It is this secondary burst of thrombin that is severely diminished in haemophilia A, a deficiency of coagulation factor VIII. We th...

Haemophilia is the only recognized haemorrhagic diathesis which is inherited as a sex linked recessive character. It is a disease of males which is transmitted through apparently unaffected females. The classical case can be recognized with certainty since the laboratory manifestations are specific. The association of a prolonged coagulation time with a normal bleeding time and platelet count, ...

INTRODUCTION Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resultant bleeding diathesis depends on the FVIII levels associated with the mutation. Analysis of carrier state can be made indirectly by DNA linkage analysis or directly by identifying the mutation that leads to the disease. The aim of this study was to identification of the causa...

Molecular genetic analysis of families with haemophilia and other inherited bleeding disorders is now a common laboratory investigation. In contrast to phenotypic testing in which strict quality control is adhered to, in haemophilia molecular genetic testing there has been a lack of any external quality assurance schemes. In 1998 the UK National External Quality Assessment Scheme (UK NEQAS) est...