Heading off hemophilia in the womb


Author: John Monczunsk

A team of biologists and chemists has developed a technique that promises to head off hemophilia before birth.

Led by Elliot D. Rosen, associate director of Notre Dame’s W.M. Keck Center for Transgene Research, researchers from the Keck Center and ND’s Department of Chemistry and Biochemistry succeeded in transferring liver cells into mouse embryos that lacked the ability to produce an essential blood-clotting protein.

Mice unable to produce the protein either die before birth or shortly thereafter. But those receiving the cell transplant survived long term, with the new cells living on in the livers of about half of the adult mice.

The technique could become a new pre-birth way to address human hemophilia, a group of hereditary bleeding disorders. Hemophiliacs fail to produce enough blood-clotting proteins, resulting in spontaneous bleeding, particularly in joints, muscles and internal organs.

Conventional hemophilia treatments rely on injections of a substitute coagulation factor obtained from donor plasma or, more recently, genetically engineered preparations. But more than 15 percent of patients develop antibodies to the substitutes and become resistant to further treatment. The factors produced by the transplanted cells don’t appear to trigger an immune reaction.

The researchers described the transplant technique in a paper published earlier this year in the inaugural issue of the Journal of Thrombosis and Haemostasis.

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