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:5/31/2016)... ... ... A book about the self-discovery of one’s limitless creative power, “ Unleash Your ... give readers the courage they need to embrace their creativity and unleash it as ... my life to learn and create what I set my heart with no limits ...
(Date:5/31/2016)... (PRWEB) , ... May 31, 2016 , ... "ProDrop 3D ... projects to the next level," said Christina Austin - CEO of Pixel Film Studios. ... Studios. With ProDrop 3D Abstract have the ability to generate and manipulate three-dimensional shapes ...
(Date:5/31/2016)... ... ... According to recent statistics, there are nearly half a million physical therapists ... physical therapy professional and every clinic has a duty to perform at the highest ... competitive industry is also essential. The solution that many physical therapy leaders turn to ...
(Date:5/31/2016)... (PRWEB) , ... June 01, 2016 , ... ... “ Psoriasis and smoking: links and risks ”. , As corresponding author Professor ... on the relation between smoking habits and psoriasis. Smoking influences the onset and ...
(Date:5/31/2016)... ... May 31, 2016 , ... ... that considers individuals’ genetic characteristics and the physical and behavioral worlds in ... in sync. In personalized medicine, diagnosing an individual’s disease depends on accurately ...
Breaking Medicine News(10 mins):
(Date:5/26/2016)... , May 26, 2016 ... market growth is the emergence of new treatments. Cardax, ... therapies for osteoarthritis treatment. The therapy is expected to ... Arthritis Research UK is conducting studies to develop new ... study, where the genes involved in osteoarthritis are being ...
(Date:5/26/2016)... , May 26, 2016   ... software and analytics, network solutions and technology-enabled ... announced it entered into a strategic channel ... of outpatient software solutions and revenue cycle ... specialty hospitals and rehabilitation clinics to optimize ...
(Date:5/25/2016)... -- FDA 510(k) clearance covers Confocal ... urological and surgical applications Mauna Kea ... the multidisciplinary confocal laser endomicroscopy (CLE) platform, today ... with the 12 th 510(k) clearance from ... new FDA clearance covers Confocal Miniprobes indicated for ...
Breaking Medicine Technology: