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Discovery gives a possible clue as to why some people with thalassemia may have a more severe anemia than others. by Craig Butler |
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February 19, 2008 - A new study conducted in Sardinia by the National Institute on Aging (NIA), a component of the National Institutes of Health (NIH), has identified a gene variant that may help explain why there may be significant variation among the severity of anemia experienced by different individuals with beta-thalassemia.
Thalassemia is common in the small Mediterranean island of Sardinia. At one point, thalassemia major was present in 1 in 250 births on the island, though intensive education efforts have been amazingly effective and have reduced the incidence to 1 in 4000. The NIA study, entitled “Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of B-thalassemia” and published in the Proceedings of the National Academy of Sciences, found a genetic variant in the BCL11A gene that seems to play a role in the amount of fetal hemoglobin produced by an individual. Those thalassemia patients with the specific variation produce higher levels of fetal hemoglobin, which helps to moderate the anemia resulting from the lack of “adult” hemoglobin. Researchers also discovered an association between the BCL11A variant and fetal hemoglobin levels among patients with sickle cell disease. This 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. |
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| Cooley's Anemia Foundation, Inc. TEL: 800 522-7222 FAX: 212 279-5999 info@cooleysanemia.org | ||||||
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