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...

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...

Gene therapy may be the next major advance for treatment of many diseases, and severe haemophilia (an inherited deficiency of coagulation factor VIII or IX) is a useful model. Progress in gene therapy has been slowed down following fatal multi-organ failure during an adenovirus vector trial for ornithine-transcarbamylase deficiency and two episodes of leukaemia in a retroviral vector trial for ...

The advent of AIDS not only signifies the emergence of a new disease that affects hitherto healthy members of the general population but also highlights many unresolved problems of people with haemophilia, a life-long genetic disorder of blood clotting. Although HIV infection and the threat of AIDS has been a tragedy for people with haemophilia, the reported study shows that in spite of recent ...

Higher self-efficacy in chronic disease patients is associated with higher development of self-management skills and increased quality-of-life. Quantification and monitoring of self-efficacy is therefore of importance. Self-efficacy in haemophilia patients has received little attention due to lack of standardized scales. To validate the novel Haemophilia-specific Self-Efficacy Scale (HSES) in h...

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 ...

Haemophilia is the most frequent hereditary haemorrhagic illness and it is due to the deficiency of coagulation factors VIII (haemophilia A, HA) or IX (haemophilia B, HB). The prevalence of this disease varies according to the country, those having better survival rates having also higher prevalences. Specifically in Costa Rica, there are around 130 HA and 30 HB families. This study reports the...

BACKGROUND Ablation of the synovium with radiopharmaceuticals, referred to as radiation synovectomy, (RS), has emerged as a simple affordable and safe procedure that is highly effective in preventing chronic disabling end stage arthritis in haemophilia patients. OBJECTIVE To provide a review of the principles and role of radiation synovectomy, (RS), in the management of haemophiliac patients ...

Orthodontic treatment is fully consistent with general health and it also improves quality-of life along with psychological considerations. Haemophilia is a disorder in which due to deficiency of some coagulation factors. Hereditary deficiency of coagulation factors has caused 90% of hereditary diseases: Haemophilia A, Haemophilia B and von Willebrand’s. Two issues need to be considered in the ...