Hadassah

Hadassah Researchers Discover Reason For Life-Threatening Infections in Infants That Lead to Bone Marrow Failure

Tuesday, Apr 30 2013

A multidisciplinary team of researchers at the Hadassah Medical Center have discovered the reason behind recurrent life-threatening infections in infants that has led to bone marrow failure. Through six months of intensive research, Dr. Polina Stepensky, a pediatric hemato-oncology and bone marrow transplant specialist; Prof. Orly Elpeleg, head of the Department of Genetics and Metabolic Diseases; and Prof. Dror Mevorach, head of Internal Medicine B and Director of the Rheumatology Research Center, identified a gene mutation in the Vps45 gene which causes accelerated cell death in select white blood cells and bone marrow.

Additionally, they noted that the intracellular transport system in the blood cells was collapsing due to the absence of intracellular storage vesicles. The authors of the study note that "this is the first report of a Vps45-related disease in humans," which manifests itself with abnormally low levels of the white blood cells produced in the bone marrow, platelet abnormality, disorder of the bone marrow, and progressive bone marrow failure. They also bring out that "elucidation of the underlying mechanism is important because it extends our understanding of the more common adult forms of these disorders."

The researchers analyzed data from five Palestinian children who suffered from recurrent, serious infections, followed by bone marrow failure. Although they came from two unrelated families, the children were products of consanguineous marriages (sharing a common ancestry). The two older siblings, who also came to Hadassah for treatment, died prior to the study. Two of the surviving children have, however, recovered from this debilitating condition thanks to successful bone marrow transplants performed at Hadassah.

The research findings were published in the April 18, 2013 on-line edition of the prestigious medical journal, Blood , and have drawn world-wide attention.



Read about it in The Jerusalem Post>>

Comments

No comments yet.
First Name
Email
Comment
Enter this word:

Related Stories

alt_text

Wednesday, Sep 28 2016

Hadassah Medical Organization Goes on High Alert for Peres Funeral

Thousands of visitors, including high profile dignitaries, are expected to arrive in Jerusalem for the funeral of past Prime Minister and President Shimon Peres, who will be laid to rest on Friday, September 30.

READ MORE ›
alt_text

Friday, Sep 23 2016

2016 Graduates from 19 Countries Celebrate Hadassah’s IMPH Program

Singing "It's a Wonderful Country" in Hebrew, wearing their native dress, the members of the 41st International Master of Public Health (IMPH) program of the Hadassah-Hebrew University Braun School of Public Health and Community Medicine celebrated their graduation.

READ MORE ›
alt_text

Monday, Sep 19 2016

Hadassah Hospital Treats Terror Victims After Stabbing Attacks

This last week has brought a burst of terror attacks.

READ MORE ›
alt_text

Thursday, Sep 15 2016

2012 Hadassah Stage-Four Melanoma Patient Thankfully Healthy

"Doctors in Florida who pronounced me ‘soon-dead’ can't believe that I'm healthy today,” said Hadassah melanoma patient Stewart Greenberg.

READ MORE ›

Contact Us

40 Wall Street

New York, NY 10005

support@hadassah.org

More ›

Membership Questions

membership@hadassah.org

(800) 664-5646

Donation Questions

donorservices@hadassah.org

(800) 928-0685

Missions Department

missions@hadassah.org

(800) 237-1517

Show More