Hb Çapa | alpha94(G1)Asp->Gly |
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CONTACT | alpha1beta2 contact | ||
HEMATOLOGY | Nearly normal in the heterozygote | ||
ELECTROPHORESIS | Hb X can be detected by IEF where it has a mobility slightly cathodic to Hb S | ||
CHROMATOGRAPHY | Hb A and Hb X can be separated by cation and anion exchange chromatography | ||
STRUCTURE STUDIES | Separation of tryptic peptides by reversed phase HPLC methodology; amino acid analysis | ||
DNA ANALYSES | A GAC->GGC mutation at codon 94 of the alpha1-globin gene | ||
FUNCTIONAL STUDIES | Decreased oxygen affinity | ||
STABILITY | Mildly unstable | ||
OCCURRENCE | Found in members of a Turkish family | ||
OTHER INFORMATION | Quantity in the heterozygote 14-15% |
REFERENCES | |||
1. | Dinçol, G., Dinçol, K., Erdem, S., Pobedimskaya, D.D., Molchanova, T.P., Ye, Z., Webber, B.B., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 18:57, 1994. |