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Hb Baden: Structural and functional characterization
Author(s) -
Abdulmalik Osheiza,
Safo Martin K.,
Seeholzer Steven H.,
Asakura Toshio,
Hasbrouck Nicole C.,
Russell J. Eric
Publication year - 2010
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.21831
Subject(s) - hemoglobinopathy , globin , heterozygote advantage , thalassemia , mutation , compound heterozygosity , hemoglobin , genetics , biology , hemolytic anemia , immunology , genotype , biochemistry , gene
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 O 2 . These properties are likely to affect the physiologies of individuals who inherit the β Baden mutation in trans to 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.