Hb Chapel Hill | alpha74(EF3)Asp->Gly |
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CONTACT | External; near central cavity | ||
HEMATOLOGY | Uncertain, may cause mild anemia in the heterozygote | ||
ELECTROPHORESIS | Hb X moves to the position of Hb S on starch gel at alkaline pH | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by cation exchange HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | A GAC->GGC mutation at codon 74 of the alpha1-globin gene (Ref. 3) | ||
FUNCTIONAL STUDIES | Increased oxygen affinity | ||
STABILITY | Slightly unstable | ||
OCCURRENCE | Found in a Caucasian female and in a Chinese family | ||
OTHER INFORMATION | Quantity in heterozygotes 20-25% |
REFERENCES | |||
1. | Orringer, E.P., Wilson, J.B., and Huisman, T.H.J.: FEBS Lett., 65:297, 1976. | ||
2. | Liang, H., Lung, Q-F., Tang, Z., Fei, Y-J., Su, C., Chen, S.S., Webber, B.B., Wilson, J.B., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 10:77, 1986. | ||
3. | Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. |