Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E

Hb Aubenas [beta 26(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.