Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2.

Abstract

Hb Evanston (alpha 14 Trp leads to Arg) was detected on cellulose acetate at pH 8.4 as a band with an electrophoretic mobility similar to that of Hb S. In addition, a band migrating cathodic to Hb A2 suggested the presence of a variant Hb A2 with a substitution in the alpha-chain, a fact that was later confirmed by structural analysis. An unusual feature of Hb Evanston is its low percentage; less than 10% occurs in the hemolysate. Studies indicate that the variant is not unstable, but there appears to be a defect in globin-chain synthesis. Gene mapping also shows that it is associated with the alpha-thalassemia-2 gene. The variant has high oxygen affinity with normal cooperativity and a normal Bohr effect. The combination of Hb Evanston with alpha-thalassemia-2 produced anemia in this black family.

• Authors: W F Moo-Penn, R M Baine, D L Jue, M H Johnson, J E McGuffey, J M Benson
• Journal: Biochimica et biophysica acta (Biochim Biophys Acta) Vol. 747 Issue 1-2 Pg. 65-70 (Sep 14 1983) ISSN: 0006-3002 [Print] Netherlands
• PMID: 6882779 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Evanston
• Oxygen

Topics

• Female
• Genetic Variation
• Genotype
• Hemoglobins, Abnormal (genetics, isolation & purification, metabolism)
• Humans
• Kinetics
• Male
• Oxygen (blood)
• Pedigree
• Thalassemia (blood, genetics)