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A gene therapy for hemophilia boosts levels of a crucial clotting protein

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A gene-based therapy is potentially a step closer to becoming a one-time treatment for men with hemophilia. The life-threatening genetic disorder hinders the body’s ability to form blood clots.

In hemophilia A, the most common type, the gene responsible for a blood clotting protein called factor Penyulingan VIII has errors, leading the body to produce an insufficient amount of the protein. A new study describes how 132 men with a severe form of the disease who received one infusion of the gene therapy fared. A year later, 88 percent of them had factor VIII levels high enough to have either a mild form or no disease, researchers report March 16 in the New England Journal of Medicine.

Hemophilia A is an inherited disorder. The gene that provides instructions for making factor VIII is found on the X chromosome, so the condition more typically affects males than females. In the United States, there are 12 hemophilia A cases per 100,000 males.

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The severity of hemophilia is classified by the amount of factor VIII that the body manages to produce. People with mild disease, who have 5 to 40 percent of typical factor VIII levels, are most likely to have excessive bleeding only after injury or surgery. Moderate hemophilia, with levels 1 to 5 percent of the usual amount, can also include bleeding that occurs spontaneously, without a clear cause. People with severe hemophilia have next to no factor VIII and, without treatment, face frequent, spur-of-the-moment bleeding internally that can damage their joints or brain.

But thanks to the treatment options available, hemophilia patients “now have a normal life expectancy and are encouraged to live normal lives,” says director of the Washington Center for Bleeding Disorders and hematologist Rebecca Kruse-Jarres of the University of Washington in Seattle, who was not involved in the gene therapy study.

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