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Hb Bab-Saadoun or alpha 2 beta (2)48(CD7)Leu----Pro, a mildly unstable variant found in an Arabian boy from Tunisia.

作者信息

Molchanova T P, Wilson J B, Gu L H, Guemira F, Fattoum S, Huisman T H

机构信息

Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.

出版信息

Hemoglobin. 1992;16(4):267-73. doi: 10.3109/03630269208998867.

Abstract

Hb Bab-Saadoun which has a Leu----Pro substitution at position 48 of the beta chain was detected in a young Arabian boy living in Tunisia. His parents did not have the variant which suggests that it occurred as a spontaneous mutation. The substitution is located in the interhelical CD segment; leucine at beta 48 is an invariable amino acid that may be important as part of a spacer sequence between the two helices and its replacement by proline may affect the stability of the hemoglobin molecule. Hb Bab-Saadoun is unstable in heat and isopropanol stability tests and its chain was best isolated by parachloromercuribenzoate precipitation. It appears unlikely that the presence of Hb Bab-Saadoun results in a hemolytic anemia.

摘要

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