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

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Ethnicity / genetics
  • Female
  • Globins / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / isolation & purification
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Protein Denaturation
  • Sickle Cell Trait / genetics
  • Thalassemia / genetics
  • Tunisia

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Bab-Saadoun
  • Globins