Hb Baden: structural and functional characterization.
Hb Baden: structural and functional characterization.
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Hb Baden：结构和功能表征。
DOI：
10.1002/ajh.21831
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发表时间：
2010
影响因子：
12.8
通讯作者：
Russell,JEric
中科院分区：
文献类型：
--
作者：
Abdulmalik,Osheiza;Safo,MartinK;Seeholzer,StevenH;Asakura,Toshio;Hasbrouck,NicoleC;Russell,JEric
Hb Baden (β18Val→Met) is a rare variant hemoglobin that has never been functionally or clinically characterized. We describe a Hb Baden heterozygote who exhibits normal growth and development, as well as age‐ and gender‐appropriate hematological values. Surprisingly, in vitro analyses demonstrate that Hb Baden is relatively unstable and exhibits an abnormally high affinity for O2. These properties are likely to affect the physiologies of individuals who inherit the βBadenmutationin transto a determinant for either a functionally relevant hemoglobinopathy or a mild thalassemia. The data also provide insights into the function of the A‐helix/AB‐segment of β globin, supporting a structural model in which this poorly understood region serves as a scaffold that fixes the positions of other helices that directly impact β‐globin function. Am. J. Hematol., 2010. © 2010 Wiley‐Liss, Inc.
