Genetics and Hemophilia

Congress Sends Bush Anti-Genetic Discrimination Bill - Fox News

Redefining disease, genes and all - Andrew Pollack, International Herald Tribune


Medical science is constantly progressing, stretching the current limits and breaking new ground about what is known about the human body, its genetic makeup and what causes diseases.

The Pollack article is a fascinating glimpse into how advances in the human genome are changing how diseases are classified.

“The research is already starting to change nosology, as the field of disease classification is known. Seemingly dissimilar diseases are being lumped together. What were thought to be single diseases are being split into separate ailments. Just as they once mapped the human genome, scientists are trying to map the "diseasome," the collection of all diseases and the genes associated with them.”

Hemophilia has always been the classic case study of genetic mutations and has benefited from advances in genetic knowledge.

“Some of the earliest work has until now been with inherited diseases caused by mutations in a single gene. Diseases have been subdivided by the type of mutation. Hemophilia was divided into hemophilia A and B, caused by mutations in different genes for different clotting factors. And what was once considered a mild form of hemophilia was later identified as a variant of a different clotting disorder, von Willebrand disease, caused by mutations in a different gene and requiring a different clotting factor as treatment.”

So it is in this light that the Genetic Information Nondiscrimination Act carries even greater importance.

I’m not usually one for expansion of governmental power or governmental intrusion of this type but this is a good thing. I‘m not alone in this opinion. Separate versions of the bill passed the House 414-1 and the Senate 95-0 (Ron Paul the lone dissenter) and President Bush is expected to sign the final version.

It’s important not only for those with a genetic disorder but for those who’s only knock is they show a higher pre-disposition to more common ailments.

Ensuring genetic non-discrimination goes far to alleviating some insurance coverage and medical care concerns for our kids with bleeding disorders.