Gene therapy for haemophilia
نویسنده
چکیده
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 50,000 males. Due to the absence of these key intermediates in the clotting cascade, haemorrhage is the most frequent cause of death in untreated haemophiliacs.
منابع مشابه
Genotyping of Intron 22 and Intron 1 Inversions of Factor VIII Gene Using an Inverse-Shifting PCR Method in an Iranian Family with Severe Haemophilia A
Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
متن کاملProspects for gene therapy of haemophilia.
That gene therapy offers the promise of a cure for haemophilia was apparent more than a decade ago. After years of failure, substantial progress in the efficiency of gene transfer technology has recently resulted in impressive success in animal models with haemophilia. However, fears of the risks intrinsic to such therapy have been raised by the fate of two children cured of immune deficiency b...
متن کاملGene therapy trials in the UK: is haemophilia a suitable 'model'?
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 ...
متن کاملPrevention of spontaneous bleeding in dogs with haemophilia A and haemophilia B.
Dogs with haemophilia A or haemophilia B exhibit spontaneous bleeding comparable with the spontaneous bleeding phenotype that occurs in humans with severe haemophilia. The phenotypic and genotypic characteristics of haemophilic dogs have been well-described, and such dogs are suitable for testing prophylactic protein replacement therapy and gene transfer strategies. In dogs with haemophilia, lo...
متن کاملGene Therapy in Haemophilia
Haemophilia A (factor VIII {FVIII} deficiency) and haemophilia B (factor IX {FIX} deficiency) are rare X-linked bleeding disorders occurring at an incidence of 1:5,000 and 1:25,000 males throughout the world. Treatment of these conditions by replacement therapy with plasma-derived FVIII or FIX concentrates has been established in the developed world since the mid 1970s, but has brought with it ...
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تاریخ انتشار 2001