Bloom syndrome is otherwise known as congenital telangiectatic erythema. The disorder received its name from the physician who discovered in 1954. His name was David Bloom. Bloom syndrome is a painful condition in which the sufferer’s chromosomes break and cause complications for that person. One of the main complications of the disease is a tiny stature. Some other symptoms that come with the disorder are symptoms such as learning disabilities, pulmonary diseases, increased risk for diabetes, high-pitched voice, small jaw and prominent ears. Sufferers are highly likely to experience acute sun sensitivity, as well.
Many patients with Bloom syndrome have developed cancer, and many have died from the infections and immune system problems that the disease brought into their lives. Two people who are planning to marry and have children must consider all of the effects of Bloom syndrome. Not many people who have the disease make it to their 50th birthday and the ones who do often experience pain and discomfort. At least 33 percent of the people who have the disease today are Europeans of the Ashkenazi Jewish descent. Statistics from Genaware state that one child in every 50,000 children of Ashkenazi Jewish descent is born with Bloom syndrome. Therefore, people who are of that descent should be extra cautious and test before they procreate.
Carriers and Odds of Passing Bloom Syndrome
People inherit Bloom syndrome in an autosomal recessive way. Both parents have to be carriers of the disorder to pass it on to their children. When two carriers merge genetics, the children have a 25 percent chance of developing Bloom syndrome. Alternatively, such children can be born without Bloom syndrome, or they can simply be carriers of the disease. Because the chance of cancer, dwarfism, and shortened life span are so great, prospective parents should have tests run as quickly as possible.
Carrier DNA Tests for Bloom Syndrome
A medical professional could use many processes to test a prospect for Bloom syndrome. A standard blood test could disclose the trait to two people who are thinking about having a child. They can also test the saliva or take a buccal swab. An amniocentesis can disclose the potential for Bloom syndrome in a fetus. The price of the testing varies depending on where the potential parents have their tests taken. It could cost them several hundred dollars to take the test.
Couples should speak to a physician as soon as they start thinking about having a family. The physician can schedule the test the same day in some cases.