What is Bloom Syndrome?

Bloom Syndrome is a genetic condition characterized by a problem with the BLM gene, which normally governs recombination during cell division. Due to a malfunction in this gene, people with this condition experience chromosomal breakage and rearrangement, which can in turn cause a number of complications. There is no cure for Bloom syndrome; treatment focuses on prevention, when possible, and then managing symptoms as they emerge in patients afflicted with this condition.

This genetic disorder is named for Dr. David Bloom, who discovered it in 1954. It appears to be especially common in Eastern Europeans, especially Ashkenazim, with an estimated one in 100 Ashkenazim carrying the gene for it. This condition is recessive, so both parents must carry the damaged gene in order for a child to have Bloom syndrome, but carriers can potentially have offspring who are also carriers.

People with this condition tend to be somewhat smaller than others, and they have distinctive long, narrow faces with small chins. Their voices are often high pitched, and they frequently develop strange pigmentation patterns on their skin, especially on their faces. These traits make a person readily identifiable, and sometimes lead to social stigma due a lack of understanding about the syndrome.

Some patients also have mental or physical disabilities, and they are frequently plagued with breathing problems, fertility issues, and immune deficiencies, which can expose them to a variety of serious conditions. Many women with Bloom Syndrome experience menopause at a very early age, while men typically have difficulty making sperm. This condition also greatly increases the risk of cancer; many patients have cancer by the age of 25, in addition to an already short lifespan.

Genetic testing can be used to determine if someone is a carrier of Bloom Syndrome, and many Jewish health organizations recommend receiving tests for it and other conditions which are especially frequent in the Jewish community, in addition to attending genetic counseling sessions. Parents who are carriers may want to think carefully about the risks of passing Bloom Syndrome on to their children; some choose to pursue IVF to have children so that they can test the embryos for signs that they carry the gene.