Characterization of a new electrophoretically silent hemoglobin variant. Hb saale OR alpha 2beta 2 84(EF8)Thr --> Ala |
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| Authors: | Bissé E Zorn N Heinrichs I Eigel A Van Dorsselaer A Wieland H Kister J Marden M C |
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| Institution: | Department of Clinical Chemistry, University Hospital, Hugstetterstrasse 55, D-79106 Freiburg, Germany. bisse@med1.ukl.uni-freiburg.de |
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| Abstract: | 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. |
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