Haematologica
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Haematologica, Vol 90, Issue 12, 1695-1695
Copyright © 2005 by Ferrata Storti Foundation

Case Reports

First detection of the splice donor site IVS-I-2 (T-->B) beta-thalassemia mutation in a Chinese patient

C Liao, J Li, Y Huang, and D Li

We present the first description of a Chinese family with a rare b-thalassemia mutation commonly observed in black Americans. This mutation is a splice donor site mutation, and is associated with a phenotype of beta0-thalassemia.




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Copyright © 2005 by the Ferrata Storti Foundation.