Winnipeg researchers score breakthrough on mysterious blood disorder

WINNIPEG — A team of local researchers — aided by four generations of a western Manitoba family — has unlocked the secret to a mysterious blood disorder that could lead to improved treatment for patients.
The small group of CancerCare Manitoba and Univeristy of Manitoba scientists has identified the genetic mutation responsible for an illness known as hereditary xerocytosis.

The disorder causes the rapid destruction of red blood cells.
The cause of the syndrome, first identified in Manitoba four decades ago, had long baffled researchers.
But two years ago, local scientists organized a family reunion of relatives of the Manitoba woman who was originally detected with the illness.
The research team set up shop in the community hall of a western Manitoba town, where many of the woman’s extended family still live.
They have not been identified in order to protect their privacy.
The scientists obtained blood samples from more than 130 relatives, recorded their medical histories and performed physicals.
Then the detective game moved into the lab. With help from Yale University, the researchers employed a series of sophisticated DNA techniques to pinpoint the genetic mutation responsible for the disorder. They wound up discovering a protein that no one had ever linked with red blood cells.
“We nailed down the cause of the disorder that everyone’s been looking for,” said Dr. Ryan Zarychanski, a hematologist with CancerCare Manitoba’s centre for blood disorders.
The Manitoba group’s discovery dominates the cover of the latest edition of “Blood,” the world’s top journal on blood disorders.
Zarychanski said the mutated protein will likely help doctors to understand other inherited red blood cell disorders.
“I think it has the potential to be really neat,” he said.
(Winnipeg Free Press)