The First Japanese Case of Hb Santa Ana, an Unstable Abnormal Hemoglobin, Identified Rapidly by Electrospray Ionization Mass Spectrometry.

Abstract

Two members of a family had chronic hemolytic anemia due to unstable hemoglobin. The abnormal β-chain with a molecular weight of 16 u smaller than the normal β-chain was found within 5 minutes by analysis using electrospray ionization mass spectrometry. The substitution of amino acid was also determined rapidly by this new strategy. The leucine at the 88th position of the normal β-chain was substituted by proline in the hemoglobin as in Hb Santa Ana. This is the first report of a Japanese case of Hb Santa Ana; the clinical course was similar to that in the previously reported cases.(Internal Medicine 36: 365-370, 1997)