Haemophilia
From Ganfyd
Haemophilia is a pair of disorders (Haemophilia A and B) in which an essential component of blood clotting is completely or partially missing. Haemophilia A is deficiency of factor VIII and haemophilia B (synonym Christmas disease) is deficiency of factor IX
"Christmas disease" refers to Stephen Christmas who as a 10 year old was the first reported case in 1952 of haemophilia due to factor IX deficiency[1]. Queen Victoria was the most famous carrier of the hemophilia B gene
It is a sex-linked disease in that the relevant chromosomal locus is on the X-chromosome. Females can be carriers of the disease but only their male offspring are affected.
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Clinical
Bleeding problems in association with a family history of the disease. Typically bleeding into the joints is the most serious complication leading to joint destruction and contractures.
Treatment
Treatment is by replacement of the missing clotting factors. Until the development of recombinant factors these were derived from donated blood. This has led to a large number of people with haemophilia contracting HIV and hepatitis C before the routes of transmission of these disease were recognised.
Viral Vector Therapy
Haemophilia B has been successfully treated for over a year with an adenovirus-associated virus (AAV) vector that expressed a codon-optimized human factor IX (FIX) transgene (scAAV2/8-LP1-hFIXco) with response and no major complications[2].
References
- ↑ BIGGS R, DOUGLAS AS, MACFARLANE RG, DACIE JV, PITNEY WR, MERSKEY. Christmas disease: a condition previously mistaken for haemophilia. British medical journal. 1952 Dec 27; 2(4799):1378-82.
- ↑ Nathwani AC, Tuddenham EGD, Rangarajan S, et al. Adenovirus-associated virus vector–mediated gene transfer in hemophilia B. N Engl J Med 2011. DOI: 10.1056/NEJMoa1108046
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