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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.

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.
AuthorsT P Molchanova, J B Wilson, L H Gu, F Guemira, S Fattoum, T H Huisman
JournalHemoglobin (Hemoglobin) Vol. 16 Issue 4 Pg. 267-73 ( 1992) ISSN: 0363-0269 [Print] England
PMID1517103 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Hemoglobins, Abnormal
  • hemoglobin Bab-Saadoun
  • Globins
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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