Navigation Links
Gene variant linked to moderated symptoms of beta-thalassemia
Date:1/30/2008

What: Beta-thalassemia is a serious, potentially life-threatening disease that affects red blood cells, cells that carry oxygen via hemoglobin throughout the body. As part of the SardiNIA Study of Aging, supported by the National Institute on Aging (NIA), a component of the National Institutes of Health, scientists have found a genetic variant in the BCL11A gene that can explain why some people with beta-thalassemia seem to be protected from most dangerous symptoms. The findings appear this week in Proceedings of the National Academy of Sciences.

While all those affected in the Sardinia study population have the same mutation in adult hemoglobin, the carrier of oxygen in the red cells, some people experience less extreme symptoms than othersmild enough that these individuals do not need to undergo regular blood transfusions, usually a necessary treatment for beta-thalassemia. People with this blood disorder do not have enough hemoglobin binding to oxygen within their red blood cells and are therefore weakened. They are also at risk for hemolytic crisis, a condition in which their red blood cells are destroyed faster than their bodies can make new ones. It has been known that some individuals escape hemolytic crisis because they retain a high level of fetal hemoglobin (HbF), which is turned off at birth in most people. The persistence of fetal hemoglobin seems to substitute for the lack of adult hemoglobin sufficiently to moderate the course of the disease.

Now it has been shown that variation in the BCL11A gene, discovered through a genome-wide scan of 4,305 research participants in Sardinia and representing a founder population with a high frequency of beta-thalassemia, is strongly associated with elevated levels of HbF and is specifically more common in the individuals with less severe disease. Also in this study, researchers found the same BCL11A variant associated with persistent HbF levels among 1,242 patients from the Cooperative Study of Sickle Cell Disease, another disorder in which adult hemoglobin levels are depleted. The study raises the possibility that manipulation of BCL11A levels might be studied as a potential therapeutic intervention to alleviate hemoglobin deficiencies that occur in people with beta-thalassemia and sickle cell anemia.


'/>"/>

Contact: Megan Homer
nianews3@mail.nih.gov
301-496-1752
NIH/National Institute on Aging
Source:Eurekalert

Related medicine news :

1. Scientists demonstate link between genetic variant and effectiveness of smoking cessation meds
2. Scientists discover genetic variant associated with prostate cancer in African Americans
3. Gene Variant Doubles Risk of Prostate Cancer in Black Men
4. Gene Variant Tied to More Aggressive Prostate Cancer
5. Pot bellies linked to early signs of cardiovascular disease
6. Diet high in meat, fat and refined grains linked to risk for colon cancer recurrence, death
7. Immune deficiency linked to a type of eye cancer
8. Drop in breast cancer incidence linked to hormone use, not mammograms
9. Clinical depression linked to abnormal emotional brain circuits
10. Air pollution linked to cardiovascular risk indices in healthy young adults
11. High pollution linked to poor lung function growth in children in Mexico City
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/28/2017)... ... March 28, 2017 , ... Calibration, qualification, and the ... results and maintaining GMP and USP compliance. In a new webinar from METTLER ... requirements " these requirements are explained. The challenge is to determine how ...
(Date:3/28/2017)... (PRWEB) , ... March 28, 2017 , ... With less ... from acne, access to quality care can be limited while the desire to conquer ... offers customized prescription acne care for every customer online, today released its inaugural survey ...
(Date:3/28/2017)... , ... March 28, 2017 , ... Columbus OH. Dr. ... as one of few medical professionals in the country to sit on the 2017 ... Juvly Aesthetics, in just 2 years Dr. Harper helped propel the clinic from a ...
(Date:3/28/2017)... ... March 28, 2017 , ... Public relations pros work ... a variety of business channels. , While many results are clear, much of PR ... program. , When it comes to measurement, firms should always take an all-inclusive ...
(Date:3/28/2017)... ... ... skin is a common and unwelcomed occurrence in people of all ages, genders and ethnicities. ... the discussion of dealing with excess skin oil. “Oily skin is a challenge to many ... help remove the oily shine while keeping the skin fresh and clean,” says Dr. Au. ...
Breaking Medicine News(10 mins):
(Date:3/28/2017)... Elysium Health joins major pharmaceutical companies to ... Cambridge academic scientists through ... Institute today announces Elysium Health as a partner to the ... collaborative projects with academic researchers in Cambridge ... major research investment outside the U.S. for the ...
(Date:3/27/2017)... Summary This report provides all the information ... interests and activities since 2010. Description The Partnering Deals ... the partnering activity of one of the world,s leading life ... upon purchase to ensure inclusion of the most up to ... be delivered in PDF format within 1 working day of ...
(Date:3/27/2017)... , March 27, 2017  ImMAGE Biotherapeutics (OTCMKTS: ... immunotherapy successfully passed early toxicology and efficacy studies. The ... to target a specific protein, MAGE A, in an ... breast cancer. After 4 weeks of ... to show very little toxicity in a full toxicology ...
Breaking Medicine Technology: