Navigation Links
Gene Behind Childhood Anemias Found
Date:12/4/2008

Finding could usher in new treatments for sickle cell disease and thalassemia

THURSDAY, Dec. 4 (HealthDay News) -- Scientists have identified a gene mutation that inhibits the production of fetal hemoglobin and causes two life-threatening anemias -- sickle cell disease and thalassemia.

The finding could eventually lead to new treatments that could restore some hemoglobin production, turning these life-threatening diseases into manageable chronic conditions.

"We have identified a gene that directly silences the fetal hemoglobin gene," said lead researcher Dr. Stuart Orkin, an investigator at the Howard Hughes Medical Institute and Children's Hospital Boston. "The regulation of fetal hemoglobin is probably the most important modifier of the severity of sickle cell anemia and thalassemia."

Targeting that gene could be the key to treating both diseases, Orkin said.

"We now have a target that if we could modulate it directly, we could increase fetal hemoglobin and reverse the silencing and reawaken the fetal gene in an adult," Orkin said. "That would have tremendous therapeutic implications in both of those disorders."

While he does not see such treatment as a cure, "it would certainly be a very effective treatment," Orkin said.

The report was published in the Dec. 4 online edition of Science.

In an earlier study, Orkin's team identified five gene variants involved in hemoglobin production and the severity of disease in 1,600 people with sickle cell anemia. They identified one variant that had the most effect on hemoglobin in a gene called BCL11A, located in chromosome 2.

In the current study, the researchers show that BCL11A directly blocks the production of hemoglobin. To prove the connection, Orkin's group blocked BCL11A, and red blood cells started producing large amounts of hemoglobin.

Hemoglobin is a protein in red blood cells that transports oxygen throughout the body. In sickle cell disease, there is an abnormality in hemoglobin that makes red blood cells stiff and sickle-shaped. In thalassemia, the ability to produce hemoglobin is severely compromised.

Both diseases result in anemia that can range from mild to life-threatening. Sickle cell disease can cause severe pain and eventual organ damage. Treating thalassemia requires frequent blood transfusions and then chelation therapy, which gets rid of excess iron that can lead to organ failure.

At birth, fetal hemoglobin makes up between 50 percent to 95 percent of a child's hemoglobin before switching to adult hemoglobin production. The fetal hemoglobin may be an adaptation to the low oxygen in the fetal environment. Fetal hemoglobin has a higher affinity for oxygen, allowing it to take oxygen more easily from the mother.

Dr. Cage S. Johnson, director of the Comprehensive Sickle Cell Center at the University of Southern California Keck School of Medicine, agreed that this finding will lead to new therapies.

"This research adds to our understanding of the genetic mechanisms underlying gamma-globin production," Johnson said. "Increased understanding of the genetic control of globin will provide the basis for gene therapy of these disorders. This research is another step in the process of developing gene therapy."

More information

For more on sickle cell anemia and thalassemia, go to the Children's Cancer & Blood Foundation.



SOURCES: Stuart Orkin, M.D., investigator, Howard Hughes Medical Institute, Children's Hospital Boston, Cage S. Johnson, M.D., professor, director, Comprehensive Sickle Cell Center, University of Southern California Keck School of Medicine, Los Angeles; Dec. 4, 2008, Science, online


'/>"/>
Copyright©2008 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. When to Get Back Behind the Wheel While on the Road to Recovery
2. California Insurers are Behind the Curve with Consumer-Driven Health Plans
3. Video: The Science Behind the Soak - a Coping Tool for Todays Changing World
4. SEIU DVD Exposes How McCain Care Leaves Seniors Behind
5. The secret ingredients behind germinated rice
6. P&G Reports Fourth Quarter EPS of $0.92 and Operating Profit Growth of 13%, Behind Balanced 5% Organic Sales and Volume Growth
7. MYSTERY ER Season 2 Takes Viewers Behind the Curtain for Real-Life Medical Mysteries on Discovery Health
8. Lupus Community Rallies Behind Fiancee With Lupus in Race to the Altar
9. Yeast gives rise to new concept: cell fuel is brains behind division
10. Study provides new understanding of forces behind seasonal flu virus evolution
11. Pioneer(R) Surgical Technology, Inc. Continues to Prove Science Behind PEEK-on-PEEK(TM) Technology for Motion Preservation Devices
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Gene Behind Childhood Anemias Found
(Date:6/25/2016)... ... June 25, 2016 , ... ... and applications at AcademyHealth’s Annual Research Meeting June 26-28, 2016, at the Hynes ... important health care topics including advance care planning, healthcare costs and patient and ...
(Date:6/25/2016)... ... , ... As a lifelong Southern Californian, Dr. Omkar Marathe earned his Bachelors ... Geffen School of Medicine at UCLA. He trained in Internal Medicine at Scripps Green ... hematology/oncology at the UCLA-Olive View-Cedars Sinai program where he had the opportunity to train ...
(Date:6/24/2016)... ... ... Those who have experienced traumatic events may suffer from a complex set of ... or alcohol abuse, as a coping mechanism. To avoid this pain and suffering, Serenity ... event. , Trauma sufferers tend to feel a range of emotions, from depression, guilt, ...
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... ... now offering micro-osteoperforation for accelerated orthodontic treatment. Dr. Cheng has extensive experience with ... Damon brackets , AcceleDent, and accelerated osteogenic orthodontics. , Micro-osteoperforation is a ...
(Date:6/24/2016)... ... 24, 2016 , ... The Haute Beauty Network, affiliated with ... as a prominent plastic surgeon and the network’s newest partner. , Dr. ... handsome men, look naturally attractive. Plastic surgery should be invisible.” He stands by ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... -- One of Australia,s successful biotechnology scientists, ... new biotechnology company, Noxopharm Limited [ABN 50 608 966 123] ("Noxopharm"). ... list on the ASX. Noxopharm is a clinic-ready company ... Phase 1 clinical study later this year. ... biggest problems facing cancer patients - the ability of cancers to ...
(Date:6/26/2016)... 2016 Jazz Pharmaceuticals plc (Nasdaq: ... Hart-Scott-Rodino Antitrust Improvements Act of 1976, as amended ("HSR"), ... Inc. ("Celator"; Nasdaq: CPXX ) expired effective ... As previously announced on May 31, 2016, ... agreement under which Jazz Pharmaceuticals has commenced a tender ...
(Date:6/26/2016)... Ontario , June 27, 2016  VMS Rehab ... Company,s Board will take whatever measures required to build ... Company,s stock which is currently listed on the OTC ... Wexler, Company Chairman and CEO, "We are seeing an ... difficult to understand, not only by the Company, but ...
Breaking Medicine Technology: