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A new unstable haemoglobin variant: Hb Shanghai [β131 (H9)Gl→Pro] found in China
Author(s) -
Zeng Y. T.,
Ren Z. R.,
Chen M. J.,
Zhao J. Q.,
Qiu X. K.,
Huang S. Z.
Publication year - 1987
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1987.tb02330.x
Subject(s) - glutamine , trypsin , globin , amino acid , chemistry , biochemistry , microbiology and biotechnology , hemoglobin , biology , enzyme
Summary A 34–year‐old woman patient was found to have a chronic hereditary haemolytic anaemia. No abnormal haemoglobin band was detected by conventional electrophoresis, but a slow β chain could be separated on urea‐carboxymethyl cellulose chromatography. Investigations of the patient's haemoglobin revealed an unstable component. Analyses of chemical structure, including isolation and TPCK trypsin digestion of the abnormal globin chain, HPL chromatography, amino acid composition as well as sequence determination of the abnormal peptide, indicated that a glutamine was replaced by a proline at position β 131 (H9). Biosynthesis studies demonstrated a normal rate of synthesis but relatively fast degradation of the mutant β chain. The new variant is named as Hb Shanghai according to the place where it was discovered.