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...

1.0 GENERAL RECOMMENDATIONS Where guidance states this is recommended practice or text is given in italics then this should be followed to ensure quality of service. It is recommended that genetic testing for haemophilia in the UK should be performed in a member laboratory of the UKHCDO Haemophilia Genetics Laboratory Network. This is a consortium of laboratories, within Comprehensive Care Haem...

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...

The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are...

Diagnosis and management of congenital and acquired bleeding disorders in children requires not only an understanding of the unique characteristics of pediatric hemostasis but also the natural course of bleeding disorders in children, which may differ substantially from the course observed in adult patients. In this article, three bleeding disorders of great importance to the pediatric hematolo...

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...