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.
Lacan
P
P
Unité de Pathologie Moléculaire, Fédération de Biochimie Hôpital Edouard Herriot, Lyon, France.
Francina
A
A
Promé
D
D
Delaunay
J
J
Galactéros
F
F
Wajcman
H
H
D000293:Adolescent; D003062:Codon; D004587:Electrophoresis, Agar Gel; D005260:Female; D005914:Globins / Q000235:genetics; D006446:Hemoglobin E / Q000096:biosynthesis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length
D003062:Codon; D006455:Hemoglobins, Abnormal; C102338:hemoglobin Aubenas; D005914:Globins; D006446:Hemoglobin E