Congenital anemia gene is identified

MONTREAL, May 13 (UPI) -- Canadian medical scientists say they have discovered a new gene that's responsible for congenital sideroblastic anemia.

The researchers, led by Dr. Mark Samuels, a professor at the University of Montreal, said the rare disease is mainly characterized by the presence of ringed sideroblasts in the patients' bone marrow.

The Genome Canada scientists said they identified three families from the Maritime provinces, each with a child suffering from the disease. Although the families are not officially related, the scientists said it seemed very likely it would be possible to establish a genealogical link uniting them generations ago and that they exhibited what is called a founder effect.

Using new technologies developed by the Atlantic Medical Genetics and Genomics Initiative's molecular analysis team, the scientists said they succeeded in delimiting a genomic region likely to contain the gene responsible for the disease in the families.

"The identification of the causal gene can now offer patients and their family members direct molecular confirmation of their condition, allowing them to know whether they are sufferers or asymptomatic carriers of the disease," the scientists said.

The research is detailed in the early online edition of the journal Nature Genetics.