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Bloom's Syndrome
by Yael Rosenberg, RN
Description
Bloom's Syndrome is an autosomal recessive genetic disorder which is
the result of the mutation of the BLM gene located on chromosome 15.
BLM mutations prevent protein from carrying out its normal function
of maintaining gene stability. Individuals with Bloom's Syndrome
have an unusually high number of breaks along their chromosomes.
This impairs the normal activities of cells causing the many health
problems characteristic of this condition.
Symptoms
Affected Individuals, who have Bloom's Syndrome, typically have the
following physical characteristics:
• Short stature
• A narrow face with prominent nose
• Skin color changes in the face. Change more noticeable after
sunlight exposure
• Butterfly-shaped facial rash, similar to rash caused by
Lupus Erythematosis
• A high pitched voice
• An increased susceptibility to infections and respiratory
illness
• An increased susceptibility to cancer and leukemia
• Some may also have mental retardation
Males with Bloom's Syndrome are usually infertile, and some
women with Bloom’s Syndrome have fertility problems.
Incidence and Carriers
Disease Frequency: Unknown
Approx. 1 in 48,000 Ashkenazi Jews (about 1/3 of individuals
affected worldwide)
Carrier Frequency: 1 in 110 Ashkenazi Jews
Treatment
There is no treatment for the underlying cause of Bloom’s syndrome,
and therefore medical intervention is primarily preventative. Adults
with Bloom’s syndrome should be more attentive and cautious than
others in their surveillance for cancer. It is recommended that
people afflicted by this disease maintain close contact with a
physician familiar with Bloom’s. This way, with the doctor’s
assistance, pay attention to in case of an emergence of symptoms
that may signal or indicate a treatable pre-cancerous condition.
Testing
Diagnosis: by clinical features and confirmed by chromosome
analysis.
Carrier-Screening: This test requires a sample of blood. The tests
can determine whether or not a gene change is present in the gene
for Bloom's Syndrome. It is possible to detect the specific gene
change that is seen in Ashkenazi Jews with Bloom Syndrome. The test
is not as accurate for individuals who are from other ethnic
background.
Prenatal-Screening: This can be attained with the use of CVS
(chorionic villus sampling) or amniocentesis, which are performed
early in the pregnancy.
Laboratories and Screening
The following laboratories offer genetic testing for Bloom's
Syndrome:
• United States
• Israel
• Canada
• Europe
UNITED STATES
ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone:
(800) 522-2787
Fax: (800) 522-2706
Email:
clientservices@aruplab.com
Baylor College of Medicine
Medical Genetics Laboratories
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu
Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092
CytoGenX
1212 Rte 25A
Stony Brook, NY 11790
Phone: (888) GENE-MED
Denver Genetic Laboratories
UCD DNA Diagnostic Laboratory
12800 East 19th Avenue
Mail Stop 8313
Aurora, CO 80045
Phone: (303) 724-3801 (Main laboratory)
Fax: (303) 724-3802 (HIPAA-secure)
Detroit Medical Center University Laboratories
University Health Center
4201 St. Antoine
Suite 3E-1
Detroit, Michigan 48201
Phone: (313) 993-2631
Fax: (313) 993-2658
Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Telephone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu
GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
Phone: (301) 519-2100
Fax: (301) 519-2892
Genzyme Genetics General Inquiries:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Phone: (800) 848-4436
Hartford Hospital
Newington, CT
Phone: (860) 545-3409
Fax: (860) 545-3733
LabCorp
1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
Email:
genetics@labcorp.com
Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542
Mount Sinai Genetic Testing Laboratory (DNA Division)
The Mount Sinai Medical Center
One Gustave L. Levy Place
New York, NY 10029-6574
Phone: (212) 241-3055
Fax: (212) 241-9467
Email: rochelle.pakier@mssm.edu
New Jersey Medical School
Institute of Genomic Medicine
University Hospital
150 Bergen Street, F Level,
Room F342
Newark, NJ 07103
phone: (973) 972-3170
Fax: (973) 972-0795
NYU Langone Medical Center
Human Genetics Program
550 First Avenue, Room MSB 136
New York, NY 10016
Phone: (212) 263-5746
Fax: (212) 263-7590
OHSU Oregon Health & Science University
Laboratory Services L471
3181 S.W. Sam Jackson Park Road
Portland, OR 97239
Phone: (503) 494-5400
Fax: (503) 494-6922
Email: wilcoxk@ohsu.edu
PreventionGenetics
Molecular Diagnostics and BioBanking
3700 Downwind Drive
Marshfield, Wisconsin 54449 USA
Phone: (715) 387-0484
Fax: (715) 384-3661
Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874
Thomas Jefferson University
Lysosomal Diseases Testing Laboratory
Philadelphia, PA
Phone: (215) 955-1666
Fax: (215) 955-9554
Email:
david.wenger@jefferson.edu
UCLA Diagnostic Molecular Pathology Laboratory
11633 San Vicente Blvd.,
Los Angeles, CA 90049
Phone: (310) 794-2781
Fax: (310) 794-2765
UC – San Diego Medical Genetics
University of California San Diego
Division of Medical Genetics (MC 0639)
9500 Gilman Dr.
La Jolla, CA 92093-0639
Phone: (858) 534-3093
Fax: (858) 534-0269
Email: tcahill@ucsd.edu
The Victor Center for Jewish Genetic Diseases
Albert Einstein Medical Center
5501 Old York Road, Levy 2 West
Philadelphia, PA 19141
Phone:
(215) 456-8722
Victor Outreach and Screening Program for Ashkenazi Jewish Genetic
Diseases
Floating Hospital for Children at Tufts Medical Center
800 Washington Street, Box 340
Boston, MA 02111
Phone:
(617) 636-7721
Fax: 617 636 0745
University of Miami Miller School of Medicine, Victor Program
Deborah Zimbalist Wasserman, M.S.
Genetic Counselor/Coordinator
Miami, Florida
Phone: (305) 243-4524
Cellular: (786) 897-9587
ISRAEL
Assaf Harofeh Medical Center
Molecular Genetics Laboratory
Zerifin, Israel
Phone: (+972) 8-977-9617
Web:
http://www.assafh.org/ENG/index.asp
[The] Bnai Zion Medical Center
The Simon Winter Institute for Human Genetics,
47 Eliyahu Golomb, Haifa , 33394
Phone: (+972) 4-835-9851, (+972) 4-835-9495
Web: http://www.b-zion.org.il
Carmel Medical Center
Molecular Genetics Laboratory
Michal Street , Haifa 34362
Phone: (+972)-4-8250407
Edith Wolfson Medical Center
Molecular Genetics Laboratory
Holon, Israel
Contact: Esther Leshinsky-Silver, PhD
Phone: (+972) 3-502-8692
Fax: (+972) 3-502-8543
Hadassah Hospital Hadassah Ein Karem
Human Molecular Genetic Laboratory
Dr. Israela (Issy) Lerer (Director)
POB 12000
Jerusalem 91120
Israel
Phone : (+972) 2-677-6016
Fax : (+972) 2-677-7499
Ha’Emek Medical Center
Molecular Genetics Unit
Afula 18101 , Israel
Phone: (+972) 4-6495416
Email:
morad_kh@clalit.org.il
Kaplan medical center, Molecular Genetics Laboratory
Rehovot, Israel
Phone: (+972) 8-944-1534
Web:
http://www.clalit.org.il/kaplan/
Meir Medical Center
Molecular Genetics Laboratory
Kfar Saba , Israel
Phone: (+972) 9-747-1059
Web:
http://www.clalit.org.il/meir/Content/Content.asp
Meuhedet Rosh Haayin
Molecular Genetics Laboratory.
Hey Beiyar 22 Rosh Haayin 48056 Israel
Phone: (+972) 3-9155330
Fax: (+972) 3-9155331
https://www.meuhedet.co.il
Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email:
info@prontodiagnostics.com
Rabin Medical Center
Molecular Genetics
Petah Tikva, Israel
Director: Mordechai Shohat, MD
Genetic Counselor: Inbal Kedar, MSc
Phone: (+972) 3-937-7659
Fax: (+972) 3-937-7660
Rambam Medical Center, Molecular Genetics Laboratory
PO Box 9602 Haifa 31096 Israel
Phone: (+972)- 4-854-2456
Prof. Ruth Gershoni -Baruch
Email:
rgershoni@rambam.health.gov.il
Sheba Medical Center
The Danek Gertner Institute Human Genetics
Molecular diagnosis Laboratory
Tel Hashomer; Ramat Gan . 52621, Israel
Phone: (+972)-3-530-3060
Web:
http://www.eng.sheba.co.il/
Soroka University Medical Center
Genetics Laboratories
Beer-Sheva , Israel
Phone: (+972)- 8-640-0258
Web:
http://www.clalit.org.il/soroka/Content/Content.asp?CID=43&u=420
Tel Aviv Sourasky Medical Center
Genetic Lab
Sourasky Builidng, 1st Floor, Wing 1
Tel Aviv, Israel
Phone: (+972) 3-697-4704
Phone: (+972) 3-697-3992
Fax: (+972) 3-697-4555
Western Galilee Hospital-Naharia
Molecular Genetics Laboratory
P.O.Box 21
Naharia 2100 Israel
CANADA
The Hospital
for Sick Children
Molecular Genetics Division
555 University Avenue
Room 3420, Hill Wing
Toronto, ON M5G 1X8 Canada
Tel: (416) 813-7200 ext. 1
Fax: (416) 813-7732
Procrea
Division of Opmedic Group Inc.
1361 Beaumont Avenue
Suite 301
Mont-Royal (Quebec)
H3P 2W3
Phone: (514) 345-8535
Toll Free: (888) PROCREA
Contact: France Lagace
Phone: (514) 345-8535 ext 2234
Fax: (514) 345-8978
Email: flagace@procrea.com
EUROPE
• Germany
GERMANY
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email:
office@centogene.com
Support Groups
The Milo Gladstein Foundation for Bloom's Syndrome
7095 Hollywood Blvd #583
Los Angeles CA 90028
Email:
info@milogladsteinfoundation.org
Web:
http://www.milogladsteinfoundation.org
Chicago Center for Jewish Genetic Disorders
Ben Gurion Way
One South Franklin Street Fourth Floor
Chicago IL 60606
Phone: (312) 357-4718
Fax: (312) 855-3295
Email:
jewishgeneticsctr@juf.org
Web:
http://www.jewishgeneticscenter.org
Xeroderma Pigmentosum Society, Inc (XP Society)
XP Society has material on their site related to UV
protection/avoidance.
437 Syndertown Road
Craryville NY 12521
Phone: (877) XPS-CURE (877-977-2873)
Phone: (518) 851-2612
Email: Email:
xps@xps.org
Web: http://www.xps.org
Bloom's Syndrome Registry
Cornell University Medical College
1300 York Avenue
New York NY 10021
Phone: (212) 746-3956; (516) 678-5000x6217
Email:
jlg2003@mail.med.cornell.edu;
msanz@molloy.edu
Bloom’s Connect
Web:
https://sites.google.com/a/bloomsconnect.org/www/
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