A new unstable haemoglobin variant: Hb Shanghai [β131 (H9)Gl→Pro] found in China

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Abstract
A 34-year-old woman patient was found to have a chronic hereditary hemolytic anemia. No abnormal hemoglobin band was detected by conventional electrophoresis, but a slow .beta. chain could be separated on urea-carboxymethyl cellulose chromatography. Investigations of the patient''s hemoglobin revealed an unstable component. Analysis 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 .beta.131 (H9). Biosynthesis studies demonstrated a normal rate of synthesis but relatively fast degradation of the mutant .beta. chain. The new variant is named as Hb Shanghai according to the place where it was discovered.