One-stop screening available for three genetic disorders.
By JUDY SIEGEL-ITZKOVICHdoctors 224.88(photo credit: )
A screening test for couples who want to know if they are at risk of having a baby with cystic fibrosis has been added to the basket of health services. It can now be performed at the same testing stations as those for other severe inherited disorders such as Tay-Sachs and the thalassemia blood disease.
The Health Ministry said Sunday the three tests, which are free, can be carried out together using a single blood sample from each individual, and that it has expanded the number of labs licensed to test for these genetic disorders.
Until now, a couple referred for genetic testing went to a ministry facility for Tay-Sachs screening and to a health fund lab or other genetic lab for other tests. Now there will be fewer places to go.
A list of all sites where testing is available has been posted on the ministry's Web site, www.health.gov.il.
There are other genetic disorders not in the basket of health services that couples will have to pay for privately or will be able to get at a subsidized price from their health fund. Couples should consult their health insurer about these additional tests, the ministry said.
For years, haredi and some modern Orthodox couples have been going for paid testing for a series of inherited disorders before they get engaged to be married, at Dor Yesharim, a voluntary religious organization. They are not told if they are carriers, but the code numbers of each member of the couple are compared, and they are informed if they are genetically compatible or not. Secular couples and others usually go to ministry or health fund labs after they get engaged or are already married; most decide to abort a defective fetus if it has a severe genetic disease.
Cystic fibrosis affects the mucous glands of the lungs, liver, pancreas and intestines, causing progressive disability due to multisystem failure. Thick mucus production results in frequent lung infections, and reduced secretion of pancreatic enzymes is the main cause of poor growth, fatty diarrhea and fat-soluble vitamin deficiency. There is no cure, and most die from lung failure in young adulthood; some undergo lung transplants that extend their lives. It is most common among Ashkenazi Jews and European non-Jews.
The type of Tay-Sachs disease diagnosed in newborns is a fatal genetic disorder that causes harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain. It is caused by a genetic mutation on the HEXA gene on chromosome 15; one mutation is most common in Ashkenazi Jews, while another is found in French Canadians.
Thalassemia is an inherited recessive blood disease whose victims produce smaller amounts of one of the globin chains that make up hemoglobin, resulting in severe anemia. The disease is particularly prevalent among peoples of the Mediterranean and some Asian regions, with higher prevalence among the Greeks, Cypriots Italians, Arabs, Kurdish Jews and other groups.
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