Hb Aubenas [β26(B8)GLU→GLY]: A new Variant Normally Synthesized, Affecting the Same Codon as in Hb E

Abstract

Hb Aubenas [β26(B8)Glu → Gly] is a mildly unstable variant that was found in a French family without hematological or clinical features. The structural abnormality was determined by protein chemistry methods, including tandem mass spectrometry, and was confirmed by Apa I digestion of a polymerase chain reaction-amplified DNA fragment. Although the substitution involves the same residue as in Hb E, the new nucleotide sequence does not create an additional out-of-frame splice site. The mutated chain is therefore normally synthesized.