Registry Offers Help for Hemophilia Patients

Published: Monday, September 22, 2014 at 10:17 p.m. Last Modified: Monday, September 22, 2014 at 10:17 p.m.

Right now a registry is being built through free testing for people in the United States with the two main types of hemophilia A and B. It is gathering information to help in their clinical care and to advance scientific research that is expected to lead to new treatments.

Hemophilia is a chronic bleeding disorder in which one of the proteins needed to form blood clots is missing or reduced. It can cause internal bleeding for long periods. Treatment usually involves a patient injecting himself with the missing clotting factor regularly as prevention or to stop an episode of bleeding. The condition usually occurs in males, with rare exceptions.

The program, known as "My Life, Our Future," is a partnership of the National Hemophilia Foundation, the Puget Sound Blood Center in Seattle, the pharmaceutical company Biogen Idec and the American Thrombosis and Hemostasis Network. It offers free genotyping to patients getting care at hemophilia treatment centers around the country.

In each sample, the genetic makeup of each person will be noted, including the clotting-factor mutations that are part of their type of hemophilia. Genes in hemophilia A have a factor VIII deficiency; hemophilia B has a factor IX deficiency.

Hematologist Barbara A. Konkle, director of clinical and translational research at Puget Sound, said recently that more than 1,000 patients have enrolled in the program. Once 5,000 people agree to participate in the research, scientists can apply to study the data and samples.

Dr. Konkle said before this, it was thought that only 20 percent of patients had their genotype determined for their hemophilia.

"We increased that. In the last week, we received 100 new samples. Right now we have 46 different hemophilia treatment centers (that) are ready to enroll or are enrolling. We continue to have sites coming on board."

A patient's genotype will be determined in the Puget Sound laboratory and then, with the patient's consent, it will be added to a database of the thrombosis network, where researchers also will have access to phenotypic information how a person's genes are expressed and environmental influences. No data will identify the patient.

"There aren't special therapies for specific genotypes," Dr. Konkle said. "But knowing the genotype can help us understand a couple of things."

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Registry Offers Help for Hemophilia Patients