Hb Duan | alpha75(EF4)Asp->Ala |
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CONTACT | External | ||
HEMATOLOGY | Mild microcytosis and hypochromia in the heterozygote | ||
ELECTROPHORESIS | Hb X moves between Hb S and Hb F on cellulose acetate at alkaline pH | ||
CHROMATOGRAPHY | Hb X and Hb A separate by anion exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | A GAC->GCC mutation at codon 75 of the alpha1 gene on a chromosome with the 4.2 kb deletion that removes the alpha2 gene | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Stable | ||
OCCURRENCE | Found in a few Chinese families | ||
OTHER INFORMATION | Quantity in heterozygotes ~37%; this high level is due to the additional alpha-thal-2 (4.2 kb) deletion |
REFERENCES | |||
1. | Liang, C-C., Chen, S-S., Jia, P-C., Wang, L-F., Luo, H-Y., Liu, G-Y., Liang, S., Lung, G-F., Yu, C-M., Zhuang, L-Z., Liang, B-L., and Tang, Z-N.: Hemoglobin, 5:481, 1981. | ||
2. | Liang, S., Tang, Z., Su, C., Lung, Q., Liang, R., Fei, Y.J., Kutlar, F., Wilson, J.B., Webber, B.B., Hu, H., and Huisman, T.H.J.: Hemoglobin, 12:13, 1988. |