Navigation Links
New approach to sickle-cell disease shows promise in mice

A new genetic approach to treating sickle cell disease is showing promising results in mice, report researchers from Children's Hospital Boston. By inactivating a gene they previously discovered to be important in the laboratory, they were able to boost production of a healthy fetal form of hemoglobin in the mice, potentially compensating for the defective adult hemoglobin that causes red blood cells to "sickle" and obstruct blood flow.

The study was presented by first author Jian Xu, PhD, on Sunday, December 6, at the American Society for Hematology meeting in New Orleans, at a 3 p.m. Plenary Scientific Session.

Currently, there are only a limited number of therapies available for patients with sickle cell disease, the most common inherited blood disorder in the U.S., says senior study author Stuart H. Orkin, MD, of Children's Division of Hematology/Oncology, also David G. Nathan Professor of Pediatrics at Harvard Medical School.

Shortly after birth, babies switch from producing the fetal form of hemoglobin, the protein inside red blood cells that carries oxygen, to producing the adult form the type that is affected in sickle cell disease. It's long been known that people who retain the ability to produce fetal hemoglobin have much milder disease. In previous studies (, the Children's researchers, with collaborators, found that a gene called BCL11A is involved in switching off fetal hemoglobin production in adults. Working with genetically engineered mice, they then explored whether that switch could be turned back on to alleviate the disease.

In embryonic mice, inactivation of the BCL11A gene led to a robust expression of gamma-globin (the long protein chains making up the fetal form of hemoglobin) during late gestation: more than 90 percent of the globin produced was of this fetal type. In adult mice (8-10 weeks old), inactivation of the BCL11A gene in the blood system resulted in more than a 1,000-fold increase in gamma-globin production in bone marrow erythroblasts (the precursors to red blood cells) as compared with control mice. This increase was rapid and persisted during the course of the experiments (up until the mice were 25 weeks old).

This line of research began with comprehensive gene association studies, published in 2008 with collaborators at the Broad Institute of Harvard and MIT ( These studies, involving 1600 patients with sickle cell disease, identified five DNA sequence variants (altered strings of genetic code) that correlated with fetal hemoglobin levels. BCL11A, on chromosome 2, had the largest effect, and Orkin and Vijay Sankaran, an MD-PhD student working with Orkin, later demonstrated that this gene directly suppresses fetal hemoglobin production.

If these preliminary results in mice hold up in human studies, inactivating BCL11A may also help patients with thalassemia, another blood disorder involving abnormal hemoglobin, adds Orkin.


Contact: Rob Graham
Children's Hospital Boston

Related medicine news :

1. Buchang Global Health Forum 2009: An Innovative Approach for Management of H1N1 Swine Flu
2. Brandeis studies evaluate visionary approach to improving eyesight
3. TMJ and Chiropractic Care: An Overall Wellness Approach
4. Endologix Receives IDE Approval for Fully Percutaneous Approach to EVAR
5. Dallas Facial Plastic Surgeon Publishes Cutting-Edge Novel Approach To Facelift Technique
6. Avizents New TeamCOMP Approach Helps Ensure Lower Workers Comp Costs and Faster Claims Resolution
7. Regence Takes Community Approach to Provider Reviews
8. Depression in older cancer patients can be effectively treated with collaborative approach
9. Inventive combination of research approaches identifies new target for treating leukemia
10. New approach for the treatment of malignant brain tumors
11. Global Regulators to Discuss Benefit-Risk Approaches of Medicinal Products at DIA Workshop
Post Your Comments:
(Date:11/26/2015)... ON (PRWEB) , ... November 26, 2015 , ... ... of a real-time eReferral system for diagnostic imaging in the Waterloo region. Using ... BMD and Nuclear Medicine tests directly from their electronic medical record (EMR) without ...
(Date:11/26/2015)... ... November 26, 2015 , ... WorldCare International, Inc., ... the 61st annual Employee Benefits Conference. The Employee Benefits Conference was hosted by ... through Wednesday, November 11th, 2015. The conference was held at the Hawaii Convention ...
(Date:11/25/2015)... ... 25, 2015 , ... As part of a global movement ... volunteers together who want to combine talents and resources to help create sustainable ... process. The non-profit launched its first major fundraiser on November 6, 2015 at ...
(Date:11/25/2015)... ... November 25, 2015 , ... Dr. John Pierce, Medical ... more about hair loss treatment with the Capillus272™ Pro laser therapy cap. FDA cleared ... thicker and fuller hair, without the need for surgery, prescription pills, or topical foams. ...
(Date:11/25/2015)... ... 25, 2015 , ... Lakeview Health, a Jacksonville-based drug and ... sobriety and show through pictures what a positive difference it makes. The social ... the hashtag #FacesOfGratitude on their Facebook, Twitter, and Instagram accounts. Short stories ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... , November 26, 2015 3D ... by 2022, according to a new report by Grand View ... Kidney Disease (CKD) which demands kidney transplantation is expected to ... cost effective substitute for organ transplantation. --> 3D ... by 2022, according to a new report by Grand View ...
(Date:11/26/2015)... , November 26, 2015 ... Juntendo universitetssjukhus ser potential att använda ... magnetresonansbilder (MR-bilder) för patienter med multipel ... ett forskningsavtal med SyntheticMR AB för att ... forskningsprojekt på sjukhuset. Med SyMRI kan man ...
(Date:11/26/2015)... 26, 2015 Research and Markets ( ... "2016 Future Horizons and Growth Strategies in ... Shares, Country Segment Forecasts, Competitive Intelligence, Emerging Opportunities" ... --> --> This new ... Italian therapeutic drug monitoring market, including emerging tests, ...
Breaking Medicine Technology: