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:2/12/2016)... ... February 12, 2016 , ... Young ... area, celebrates the beginning of the latest charity campaign in their community enrichment ... art. Donations to this worthy cause are currently being accepted at: http://artexpressioninc.org/ ...
(Date:2/12/2016)... FLA (PRWEB) , ... February 12, 2016 , ... Miami ... dental implants to their Miami dental office. Beginning in January, Miami Dental Specialists ... titanium. Miami Dental Specialists are the first office to be chosen by the dental ...
(Date:2/12/2016)... ... 12, 2016 , ... J Thomas & Associates Insurance Agency, ... to act as Agents of Change in the community, announces a new partnership ... to fulfill immediate needs and help them move into permanent housing. Donations to ...
(Date:2/12/2016)... (PRWEB) , ... February 12, 2016 , ... ... article about foods choices that promote eye health. These articles generally list between ... Water and health advocate Sharon Kleyne endorses every one of these lists and ...
(Date:2/12/2016)... ... 12, 2016 , ... Homeowners now have a next generation ... America‚Äôs leading brand of building products, has improved upon its industry-best array of ... version of the ColorView® Exterior Style and Color Selector. Created expressly for the ...
Breaking Medicine News(10 mins):
(Date:2/11/2016)... , Feb. 11, 2016 The primary goal ... future adoption patterns on the usage of liquid biopsy. ... following: - Timeframe of liquid biopsy adoption ... cfDNA and Evs—by organization type - Sample inflow to ... blood, saliva, stool, serum, and so on. - Correlation ...
(Date:2/11/2016)... NEW YORK , Feb. 11, 2016 ... and instruments commonly used in laboratories. These may range ... scale condensers. Laboratory glassware is made from borosilicate glass ... shock. Laboratory plasticware, on the other hand, started gaining ... that it was easier to replace glass with plastic ...
(Date:2/11/2016)... , Feb. 11, 2016  Governor Andrew M. Cuomo ... create 1,400 jobs throughout Western New York ... with the SUNY Polytechnic Institute, includes a major expansion ... in Buffalo , as well as ... facility in Dunkirk . The combined ...
Breaking Medicine Technology: