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.
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Authors | T P Molchanova, J B Wilson, L H Gu, F Guemira, S Fattoum, T H Huisman |
Journal | Hemoglobin
(Hemoglobin)
Vol. 16
Issue 4
Pg. 267-73
( 1992)
ISSN: 0363-0269 [Print] England |
PMID | 1517103
(Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Hemoglobins, Abnormal
- hemoglobin Bab-Saadoun
- Globins
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Topics |
- Adolescent
- Adult
- Child
- Ethnicity
(genetics)
- Female
- Globins
(genetics)
- Hemoglobins, Abnormal
(genetics, isolation & purification)
- Heterozygote
- Humans
- Male
- Middle Aged
- Mutation
- Protein Denaturation
- Sickle Cell Trait
(genetics)
- Thalassemia
(genetics)
- Tunisia
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