Understanding Bloom Syndrome

Bloom Syndrome is a rare disease that is passed on to children genetically. It appears primarily in children who have Eastern European Ashkenazi ancestry, but rare cases have been reported in children with different ethnic backgrounds. The chances for a person with this ancestry being a carrier for the disease are one in one hundred.

How is it passed to children?

When adults are carriers for the disease, they may not experience any symptoms. In fact, most people do not even know that they are carriers. If both parents are carriers for the disease, there is a one in four chance that their child will have Bloom Syndrome. This risk does not lessen over time, and may affect subsequent children in the family. Both parents must be carriers for the child to be at risk for developing Bloom Syndrome.

The transmission method of Bloom Syndrome is referred to as autosomal recessive. It is believed that the disease is caused by chromosomal breaks and rearrangements. This means that the actual structures of the chromosomes are affected. In severe cases of Bloom Syndrome, researchers commonly see a greater occurrence of these chromosomal breaks.

What are the symptoms?

Bloom Syndrome is characterized by a delay in growth. A facial rash, due to dilated blood vessels is commonly present. This rash may be shaped like a butterfly. The child may be sensitive to light and their immune systems are very weak. This weakness predisposes children with Bloom Syndrome towards several secondary infections and typically cancer.

The majority of children who have Bloom Syndrome will develop leukemia or lymphoma. Most of these cases are fatal, with death occurring before the age of thirty.

Intelligence levels in children with Bloom Syndrome are not typically affected. In rare cases, however, slight mental retardation may be present.

Can the disease be prevented?

The best way for parents to ensure that their children do not develop Bloom Syndrome is through genetic testing. Parents with high-risk ancestors should be tested to determine whether they are carriers for the disease. If both parents are carriers, the couple should seek the advice of a genetic therapist. Since Bloom Syndrome is severe, it is essential for parents to take these steps ahead of time. In the event that a parent is unsure of their heritage, they should be tested as a precautionary measure. Genetic testing for Bloom Syndrome is a simple process that will typically involve a blood sample that is screened for signs of chromosomal inconsistencies, as well as genetic markers for the disease.

What are the treatment options?

Unfortunately, at this time, there are no known treatments for Bloom Syndrome.