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Bloom syndrome is a genetic disorder caused by a malfunction in the BLM gene, resulting in chromosome breaks and rearrangements. It is common in Eastern Europeans, especially Ashkenazi, and can cause physical and mental disabilities, respiratory problems, fertility issues, immune deficiencies, and an increased risk of cancer. There is no cure, but genetic testing and counseling can help carriers make informed decisions about having children.
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 the condition experience chromosome breaks and rearrangements, which in turn can cause a variety of complications. There is no cure for Bloom syndrome; treatment focuses on prevention when possible, and then managing symptoms as they emerge in patients with this condition.
This genetic disorder is named after Dr. David Bloom, who discovered it in 1954. It appears to be particularly common in Eastern Europeans, especially Ashkenazi, with an estimated one in 100 Ashkenazi carrying the gene. This condition is recessive, so both parents must carry the damaged gene for a child to have Bloom syndrome, but carriers can potentially have children who are also carriers.
People with this condition tend to be a little smaller than others and have characteristic long, narrow faces with a small chin. Their voices are often high-pitched and they often develop strange pigmentation patterns on their skin, especially their faces. These traits make a person easily identifiable and sometimes lead to social stigma due to lack of understanding of the syndrome.
Some patients also have mental or physical disabilities and are often plagued with respiratory problems, fertility problems and immune deficiencies, which can expose them to a variety of serious conditions. Many women with Bloom syndrome experience menopause at an early age, while men typically have difficulty producing 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 life.
Genetic testing can be used to determine if someone carries Bloom syndrome, and many Jewish health organizations recommend getting tested for it and other conditions that are particularly common in the Jewish community, as well as attending genetic counseling sessions. Carrier parents 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 they can test the embryos for signs that they carry the gene.
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