Article
Hb Bab-Saadoun or alpha 2 beta (2)48(CD7)Leu----Pro, a mildly unstable variant found in an Arabian boy from Tunisia.
Hemoglobin - 1 Jan 1992
Molchanova T P, Wilson J B, Gu L H, Guemira F, Fattoum S, Huisman T H
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Child
- Ethnicity
- Female
- Globins
- Hemoglobins, Abnormal
- Heterozygote
- Humans
- Male
- Middle Aged
- Mutation