Characterization of a new electrophoretically silent hemoglobin variant. Hb saale OR alpha 2beta 2 84(EF8)Thr --> Ala.
A new abnormal hemoglobin was detected in a young German anemic patient by cation-exchange high performance liquid chromatography (HPLC). Using a combination of electrospray mass spectrometry, HPLC, direct sequencing, and family screening with polymerase chain reaction/restriction digestion approach, we have characterized this hemoglobin variant as resulting from a Thr --> Ala replacement at beta84(EF8). It could be separated neither by electrophoresis nor by isoelectric focusing. Hb Saale is slightly unstable, exhibiting a moderate tendency to auto-oxidize. Functional properties and the heterotropic interactions are similar to those of Hb A.
Bissé
E
E
Department of Clinical Chemistry, University Hospital, Hugstetterstrasse 55, D-79106 Freiburg, Germany. bisse@med1.ukl.uni-freiburg.de
Zorn
N
N
Heinrichs
I
I
Eigel
A
A
Van Dorsselaer
A
A
Wieland
H
H
Kister
J
J
Marden
M C
MC
D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005260:Female; D014644:Genetic Variation; D005858:Germany; D006441:Hemoglobin A / Q000737:chemistry; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D008875:Middle Aged; D008958:Models, Molecular; D008969:Molecular Sequence Data; D010375:Pedigree; D010446:Peptide Fragments / Q000737:chemistry; D011487:Protein Conformation; D017433:Protein Structure, Secondary; D020133:Reverse Transcriptase Polymerase Chain Reaction
D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; C411876:hemoglobin Saale; D006441:Hemoglobin A