A group of Manitoba medical researchers has solved a medical mystery that is expected to aid in the treatment of patients with a relatively rare blood disorder around the world.
The team of CancerCare Manitoba and the U of M scientists has identified the genetic mutation responsible for hereditary xerocytosis, a disorder that causes the rapid destruction of red blood cells. The syndrome has baffled researchers for 40 years.
The local research team’s findings have just been published in a cover story in the publication Blood, the world’s top medical journal on blood disorders.
Hereditary xerocytosis was first identified in Manitoba 40 years ago. The cause of the illness was unknown until a team led by CancerCare’s Dr. Ryan Zarychanski began an investigation two years ago.
First, the researchers sampled blood and recorded medical histories of 130 family members of the first Manitoba patient identified with the disorder. Four generations of the same family, which CancerCare is not identifying, gathered for a family reunion in a community centre to help the researchers with their task.
"From there, in collaboration with the University of Manitoba, and with support from Yale University in the United States, we used a series of sophisticated DNA techniques and were able to pinpoint the exact genetic mutation responsible for the disorder," Zarychanski said.
He said the discovery will help researchers treat similar blood disorders around the world.