Hb Shanghai | beta131(H9)Gln->Pro |
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CONTACT | Internal; alpha1beta1 contact | ||
HEMATOLOGY | Hemolytic anemia in the heterozygote; reticulocytosis | ||
ELECTROPHORESIS | No separation of Hb X and Hb A by routine analyses | ||
CHROMATOGRAPHY | No separation reported; the betaX and betaA chains separate by CM-cellulose chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CAG->CCG at codon 131 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in members of a Chinese family | ||
OTHER INFORMATION | Quantity in the heterozygote ~35% |
REFERENCES | |||
1. | Zeng, Y.T., Ren, Z.R., Chen, M.J., Zhao, J.Q., Qiu, X.K., and Huang, S.Z.: Br. J. Haematol., 67:221, 1987. |