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Medical mystery solved

Manitobans discover blood disorder's cause

By: Larry Kusch

Tuesday, Sep. 11, 2012 at 9:35 AM | Comments: 0

Dr. Ryan Zarychanski (left) and Brett Houston are on a team that found the cause of a blood disorder. (PHIL HOSSACK / WINNIPEG FREE PRESS)

A team of local researchers -- aided by four generations of a western Manitoba family -- has unlocked the secret to a mysterious blood disorder, which could lead to improved treatment for patients.

The small group of CancerCare Manitoba and University of Manitoba scientists has identified the genetic mutation responsible for an illness known as hereditary xerocytosis, a disorder that causes the rapid destruction of red blood cells. It was first identified in Manitoba four decades ago.

Quick facts on Manitoba medical breakthrough

What is hereditary xerocytosis?

It's a disorder that causes the rapid destruction of red blood cells; they last only seven or eight days rather than the normal 120 days.

What happens to those affected?

The blood disorder leaves patients prone to jaundice, gallstones, enlargement of the spleen, low hemoglobin and iron overload, which can harm the liver, heart and other organs.How is it treated?

How is it treated?

Patients are given supplements to supply needed nutrients to their overtaxed blood-cell-producing bone marrow. Medications and other means are used to withdraw harmful iron from their bodies.What is the significance of the discovery?

What is the significance of the discovery?

Now that the cause of hereditary xerocytosis is known, it will help doctors around the world understand other inherited red-blood-cell disorders.

The cause of the syndrome had long baffled researchers. But two years ago, local scientists led by Dr. Ryan Zarychanski, a hematologist with CancerCare Manitoba's centre for blood disorders, organized a gathering of relatives of the Manitoba woman in whom the disorder was originally detected.

The research team set up shop in the community hall of a western Manitoba town where many members of the woman's extended family still live. (The family is not being identified due to privacy concerns.) The researchers obtained blood samples from more than 130 relatives, recorded their medical histories and performed physical examinations.

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 to red blood cells.

"We nailed down the cause of the disorder that everyone's been looking for," Zarychanski said Monday, referring to efforts over the past decade in Italy, France and the United States.

The Manitoba group's discovery dominates the cover of the latest edition of Blood, the world's top journal on blood disorders.

Zarychanski's team includes Dr. Donald Houston (who trained him as a hematologist) and Brett Houston (no relation), a third-year U of M medical student who has won best student project awards in Canada and North America for her role in the research.

"It's been a wonderful opportunity," said Brett Houston, who is listed in the journal article as one of the study's authors. She said the opportunities that have come from her experience "are a little bit overwhelming."

Zarychanski said the mutated protein discovered by Manitoba researchers will likely help doctors to understand other inherited red-blood-cell disorders.

"I think it has the potential to be really neat," he said.

larry.kusch@freepress.mb.ca

History

Updated on Tuesday, September 11, 2012 at 9:35 AM CDT:
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