Pediatric Hematology and Genetics Specialist Prof. Dr. Duran Canatan said that the reason for the high rate of rare diseases in Turkey is consanguineous marriage.
Pediatric Blood and Genetic Diseases Specialist in Antalya Prof. Dr. Duran Canatan made a statement on the occasion of February 28, World Rare Diseases Day. prof. Dr. Rare diseases, a highly complex group of diseases that affect more than one system, are usually caused by mutations in chromosomes or genes, Canatan said. Stating that there are over 7 thousand rare diseases in the world, Prof. Dr. Canatan stated that 1 person out of every 15 people in the world is affected by rare diseases.
THE REASON FOR THE HIGH RATE IN TURKEY...
prof. Dr. Canatan said, "While nearly 400 million people in the world are affected by rare diseases, 30 million people in Europe and 25 million people in America are affected. Rare diseases are 6-8 in Turkey, and the main reason for the high rate is the excess of consanguineous marriages. Cultures We are in a position that unites all continents for years. Therefore, many diseases occur in this region. Plus, consanguineous marriages are 25 percent in our country, that is, rare diseases are very high in our country, since one out of every 4 people is consanguineous. About 5 million people are affected by this situation. In this respect, consanguineous marriages should be reduced. For this, we recommend that young people be screened for diseases before marriage and before pregnancy. A second important issue is that families are healthy. For this, parents must be screened for rare diseases," he said.
TREATMENTS
Noting that 95 percent of rare diseases have no cure yet, Prof. Dr. "75 percent of children are affected. 30 percent of people with rare diseases die before the age of 5," Canatan said. Expressing that families with sick children should be made exon and genome analyzes and clear definitions should be made, Prof. Dr. Duran Canatan said, “Currently, nearly 332 gene analyzes are performed before pregnancy. In this way, the birth of a sick child can be prevented. For a family with a rare disease, we recommend the in vitro fertilization method to have a healthy child, after the diagnosis of both the child and the parents has been clarified by performing whole exome and genome tests," he said.
THE IMPORTANCE OF "CORD TIE"
Stating that the umbilical cord of the newborn is hidden and stem cells are used in any future disease, Prof. Dr. Canatan said, “The umbilical cord and the umbilical cord are used to preserve the blood, and the stem cells there are used in case the child and family members develop any disease in the future. By treating the sick sibling of the child born with this method in the umbilical cord blood, the family both saves the sick child and has a healthy child. Today, many centers in our country are doing this, but families should be assured that it is kept for a long time," he said.