A small region in Newfoundland may hold the key to unlocking some of the genetic mystery surrounding mild hemophilia A. It’s a mystery that began back in the 1960s, when scientists noted that a region of Newfoundland had the highest population density of mild hemophilia A reported anywhere in the world. But it wasn’t until 2001 that a team of researchers from Memorial University of Newfoundland began putting the puzzle together and came up with a much-treasured piece of information: they identified the genetic change, or mutation, that causes mild hemophilia A in the Newfoundland region.
Principal investigator Dr. Yagang Xie, assistant professor of laboratory medicine at the university, worked in collaboration with Dr. David Lillicrap at Queen’s University in Kingston and Dr. Mary-Frances Scully, director of the Newfoundland and Labrador Hemophilia Program and associate professor of hematology at Memorial University. Team members, led by Dr. Scully, include: David Macgregor, genetics counselor, Marilyn Harvey and Charlotte Sheppard, hemophilia nurse coordinators; Michelle Hendry, chief technologist of the coagulation laboratory; and Andrean Hann, physiotherapist. “These individuals put their heart and soul into the project,” says Scully. Their year-long search, helped immensely by the willing participation of the families affected by hemophilia living in the region, brought rapid and gratifying results, according to a report on the university’s Web site.
Next up for the researchers: a DNA-based test to be given to the region’s families that will provide definite answers about an individual’s hemophilia status in this population. Accurate testing will enable carriers to seek genetic counseling and result in early diagnosis and treatment for males with hemophilia, according to the researchers.
“It is the first step in a process which we hope will lead to gene therapy and an eventual cure for hemophilia,” says Dr. Scully. “Although much is known about the severe form of hemophilia, we anticipate this study will further medical and scientific understanding of the mild form of this condition.”
Many hemophilia treaters consider mild hemophilia to be of minimal clinical significance, says Scully. “Our initial studies suggest that mild hemophilia in this population has had a significant clinical impact. We now plan to study this further. We do not yet know why some of these patients have experienced such serious problems and whether this is due to the harsh local physical environment or to other factors.”