HB-AUBENAS [BETA-26(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 wa s found in a French family without hematological or clinical features. The structural abnormality was determined by protein chemistry method s, including tandem mass spectrometry, and was confirmed by Apa/digest ion of a polymerase chain reaction-amplified DNA fragment. Although th e substitution involves the same residue as in Hb E, the new nucleotid e sequence does not create an additional out-of-frame splice site. The mutated chain is therefore normally synthesized.