Bloom syndrome

How is Bloom syndrome diagnosed?

Bloom syndrome is diagnosed by either cytogenetic analysis or mutation testing. Cytogenetic analysis is used to detect if there is an increased amount of sister chromatid exchange in cells. Genetic testing can reveal if a person has mutations in the BLM gene, which are known to cause Bloom Syndrome. If an individual has a family history of Bloom syndrome, one of these two testing methods may be used to find out if the person has also inherited the condition. An unusually low birth weight and short height throughout childhood are suggestive of Bloom syndrome in an individual with an affected sibling. For more information about the diagnosis of Bloom syndrome, please visit:

Last updated on 05-01-20

Can women with Bloom syndrome become pregnant?

According to the Bloom's Syndrome Foundation, puberty in people with Bloom syndrome occurs at the usual age and sexual interests and activity are normal. This resource, along with others, indicate that women with Bloom syndrome may have reduced fertility, but several women have become pregnant. Eleven women with Bloom syndrome (followed through the the Bloom Syndrome Registry) have become pregnant at least once; seven of them have delivered a total of eleven healthy babies of normal size. It should be noted that the reproductive span may be shortened in women with Bloom syndrome because menopause tends to occur unusually early.

Last updated on 05-01-20

How might Bloom syndrome be treated?

There is currently no cure for Bloom syndrome, so treatment is generally symptomatic and supportive. Because affected individuals are hypersensitive to DNA-damaging chemicals and ionizing radiation, standard cancer treatment plans often need to be adjusted for affected individuals. Changes may include reducing both the dosage and duration of the treatment; however, the cancers in affected individuals are often unusually responsive to treatment. The wide variety of types of cancer as well as the early development of tumors in affected individuals make life-long cancer surveillance significantly important. Additionally, it is recommended that individuals avoid sun exposure to the face, particularly in infancy and early childhood. Treatment of diabetes is typically the same as for individuals in the general population.

Last updated on 05-01-20

Is gene therapy available for the treatment of Bloom syndrome?

Gene therapy, a technique for treating disease by altering the patient's genetic material, is not currently available for individuals with Bloom syndrome. In the United States, The Food and Drug Administration (FDA) has not yet approved any human gene therapy product for sale. Current gene therapy is experimental and has not proven very successful in clinical trials. lists trials in the U.S and around the world that are studying the use of gene therapy for a variety of conditions. Although there may not be a trial specific to gene therapy for Bloom syndrome listed at this time, this site is updated regularly and may be checked periodically. To search for trials studying the use of gene therapy for Bloom syndrome, click here.

More information about gene therapy including a description, the current status of research, and links to additional information can be found on a gene therapy fact sheet sponsored by the U.S. Department of Energy Office of Science.

Last updated on 05-01-20

Where can I find up-to-date information about current and potential future treatments for Bloom syndrome?

The following resources contain information about the management of Bloom syndrome:

  • eMedicine provides detailed information on the treatment of this condition. This resource is aimed at healthcare professionals. You may need to register to view the article, but registration is free.
  • GeneReviews provides current, expert-authored, peer-reviewed information including information about the management of this condition.
  • Bloom's Syndrome Foundation provides a descriptive summary prepared by the Bloom’s Syndrome Registry, including information about management of this condition.
  • lists trials that are studying or have studied treatments for Bloom syndrome. This site may be checked often for updates.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Bloom syndrome. Click on the link to view a sample search for articles on the treatments for this condition.

Last updated on 05-01-20

Name: Center for Jewish Genetics 30 South Wells St.
Chicago, IL, 60606, United States
Phone: 312-357-4717 Fax : 312-855-3295 Email: Url:
Name: Jewish Genetic Disease Consortium (JGDC) 450 West End Ave., 6A
New York, NY, 10024, United States
Phone: 855-642-6900 Toll Free: 866-370-GENE (4363) Fax : 212-873-7892 Email: Url:
Name: American Cancer Society 250 Williams Street NW
Atlanta, GA, 30329, United States
Toll Free: 1-800-227-2345 Url:
Name: Cancer Hope Network 2 North Road, Suite A
Chester, NJ, 07930, United States
Phone: +1-908-879-4039 Toll Free: 1-877-467-3638 (1-877-HOPENET) Fax : +1-908-879-6518 Email: Url:
Name: India Cancer Care Network (ICCN) Guwahati Medical College Hospital Bhangagarh, Guwahati -781032
Phone: +91-9854904063 Email: Url:
Name: Bloom's Syndrome Foundation 7095 Hollywood Blvd. #583
Los Angeles, CA, 90028, United States
Email: Url:
Name: Bloom's Syndrome Association P.O. Box 727
Hanover, NH, 03755-0727, United States
Phone: 603-643-2850 Email: Url:
German JL, Sanz M, Passarge E. Bloom's Syndrome Bloom's Syndrome Foundation. Reference Link

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