should maintain close contact with a physician that has knowledge of the syndrome. They need to pay attention to symptoms that can be early evidence of a treatable pre-cancerous condition. Respiratory infections require prompt antibiotic treatment. Although growth hormone therapy has been attempted to increase height in children with Bloom’s Syndrome, it does not appear to be affective. In addition, there is some concern that the use of growth hormone may increase the risk for later malignancies.
The diagnosis of Bloom’s Syndrome can be confirmed or ruled out by a chromosome study. Blood and skin cells show a characteristic pattern of chromosome breakage and rearrangement. The gene mutation on chromosome fifteen has been identified as the cause of Bloom’s Syndrome. Because of these findings, both carrier testing and prenatal diagnosis for Bloom’s Syndrome are available.
A carrier screening requires a sample of blood. The test can determine whether or not a change is present in the gene for Bloom’s Syndrome. It is possible to detect the specific change that is seen in Ashkenazi Jews with Bloom’s Syndrome. The test is not as accurate for individuals who are from other ethnic backgrounds. Prenatal diagnosis for Bloom’s Syndrome can be attained with the use of CVS (chorion villus sampling), or amniocentesis. Both of which are performed early in the pregnancy.
Advice For Couples That Are Carriers And The Phenotypic Appearances Of Offspring Couples in which both individuals are carriers need to take precautions in their offspring’s health development in early stages of the pregnancy. When both the parents are carriers of Bloom’s syndrome, there is a twenty- five percent chance that their offspring will have the genetic disease each pregnancy. If both parents are carriers, it would be in the best interest if the mother participates in prenatal diagnosis. Although there is a risk of a miscarriage, the parents will be able to decide what is in their best interest in their situation.
Parents should become educated of the genetic disease if they choose to keep the child or unknowingly produce a child with this disease. It is in the best interest of the child, for the parents to know of the disease and all of its effects. They should be aware of the physical appearances and health issues that their child is going to face. Close contact and a good relationship with a physician that has knowledge of the disease is essential.
The offspring with Bloom’s Syndrome will probably have redness on their face in a butterfly-like distribution. This factor is brought on by exposure to the sun. Crusting or even bleeding may occur due to their photosensitivity. Lack of the fat that normally develops in the facial area, contributes to the “birdlike” features such as a narrow face and prominent nose. The ears are relatively large and they also have a small mandible. The have long limbs and large hands and feet. They also have a very short stature and a high pitched voice.
No specific treatment exists, but avoiding sun exposure and using sunscreen can help with the photosensitivity. Efforts to minimize exposure to other known environmental mutagens also are advisable. Consultation with dermatology for establishing the diagnosis, patient and family education, and sun protection guidance are a strongly advised. Health should be closely observed in order to diagnose early stages of treatable cancers.