Hb Westmead | alpha122(H5)His->Gln |
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CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | About normal in the heterozygote | ||
ELECTROPHORESIS | No separation of Hb X and Hb A at alkaline pH; Hb Westmead can best be detected as an abnormal alpha chain by globin chain electrophoresis or by reversed phase HPLC | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Fingerprinting; amino acid analysis; chymotrypsin; Dansyl-Edman degradation | ||
DNA ANALYSES | A CAC->CAG mutation at codon 122 of the alpha2 gene (Ref. 2) | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in several Chinese and Laotian families | ||
OTHER INFORMATION | Quantity in heterozygotes 15-20%; frequently observed in combination with alpha-thal |
REFERENCES | |||
1. | Fleming, P.J., Hughes, W.G., Farmilo, R.K., Wyatt, K., and Cooper, W.N.: Hemoglobin, 4:39, 1980. | ||
2. | Jiang, N.H., Liang, S., Wen, X.J., Liang, R., Su, C., and Tang, Z.: Hemoglobin, 15:291, 1991. | ||
3. | Gu, Y-C., Gu, L-H., Wilson, J.B., Cepreganova, B., Ramachandran, M., Walker, E.L.D., III, Huisman, T.H.J., and Potitong, P.: Hemoglobin, 15:297, 1991. |