Two de novo mutations in one β globin chain: Hemoglobin atlanta-coventry, β75 Leu→Pro and β141 Leu deleted

Abstract

Reverse phase HPLC analysis of a hemolysate from a patient with hemolytic anemia revealed the presence of three different β globins. Reverse phase Peptide mapping and amino acid analysis indicated that one was normal β^A (66%), one was β Atlanta (675 Leu→Pro, 23%) and the third, β Atlanta-Coventry, contained two mutations β75 Leu→Pro and β141 Leu deleted.

The parents and four siblings of the propositus had only β^A chains, while two of his children inheriteg the β Atlanta and β Atlanta-Coventry chains from him, and β^A Chains from their mother. His third child was normal, possessing only β^A chains.