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Gene Therapy Hope for Haemophiliacs
HOPES of gene therapy for haemophilia have risen following a new technology that help* to Incorporate healthy cloned gene* Into the cell* of people • uffcrlng from the Wood disorder cause by a defective gene
Haemophilia In general refer* to all genetic disorder* caused by a deficiency of some blood coagulating factor* — n scries of proteins named Factor II. Factor VIII and so on
The deficiency can lead lo profuse bleeding both Inter nally and externally either spontaneously or from relatively minor Injuries.
There arc two major form* of luicmophllta: hpcmophtUa A caused by deficiency of Factor VIII. and haemophilia B due lo lack of Factor IX.
I lacmophilia A. also known as classic haemophilia. I* the more prevalent of the two disorder*. while haemophilia B. known as Christmas Disease after the person first described with ibis condition, accounts for 15 per cent of all haemophilia cases
In patients with haemophilia B. the gene that codes for Factor IX Is missing or defective and the body is unable to produce adequate quantities of the clotting proteins
A new Innovative Anglo-US technology now offers the prospect of Incorporating cloned healthy gene* into haemophilia B patients so that they can continuously make their own supplies of Factor IX.
The technology combines work on the haemophilia B gene carried out by scientists at Oxford University and the University of Washington in Seattle, according to a report from London. Current treatment of haemophilia Involve* Intravenous Injection of Factor VIII or IX. depending on the case, prepared from human blood donation*.
The development of Factor VIII concentrates In 1960* ha* ■ignificantiy modified the mortality and morbidity, with the average Hfc expectancy of a hncmnphlhac now approaching that of n normal Individual, soy* .i report by Alan Giles and David Lil lie rap from the department of pathology and
medicine in Queen's University tn Kingston. Canada.
Factor VIII concentrates are now available in three forms — as a cryoprecipitate, freeze dried concentrate of medium to high purity, and genetically engineered recombinant DNA producL
Frcczc-dncd and recombl nanl concentrate have several advantages: they can be stored In a domestic refrigerator or even unrefrigerated for short periods of time; the exact Factor VIII content of each Injection vail is known; and the concentrates arc highly pure and relatively free from other contaminating proteins.
Freeze-dried concentrates are now making it possible for njany haemophiliacs, including young children, to avail of home care and administer' their own treatment.
While small bleeding injuries and minor surgeries require 15 to 30 per cent re-placemcnt with Factor VIA In
surgeries require 40-50 per cent Factor VIII replacement and 60 100 per cent replacement Is needed In case* of life threatening bleeding. Including some elective surgical procedure*.
However, Factor VIII concentrale* sometimes muse a few complications, chiefly, viral Infections and the development of Inhibitor*. beside* a few minor allergic*.
The most dangerous of the viral infection* that can arise arc human Immuno deficiency virus (HIV) and hepatitis Infections from contaminated blood used for preparing the clotting factor*.
Inhibitor* to the clotting factor* arise In about 10 per cent of treated haemophiliacs, leading lo a diminished response to treatment. Doctor* are still not sure of why these Inhibitors develop, but say the tendency I* Inherited.
In a related development, scientists have prepared Factor VIII from non-human plasma source*, of which pig's blood has proved to be the most promising.
Purified porcine Factor Vlll Is probably the most effective currently available treatment for life-threatening bleeds In haemophiliacs, especially those who have developed inhibitors.
However, doctors caution, since there is a risk of heterologous antibodies developing to the pig proteins, the approach should be reserved for those cases in which other measures have failed.
PT1 Science Service