Hb Cocody | beta21(B3)Asp->Asn |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH (Hb X moves like Hb S); excellent separation on IEF | ||
CHROMATOGRAPHY | Hb X and Hb A can be separated by cation exchange HPLC; the betaA and betaX chains separate completely by reversed phase HPLC | ||
STRUCTURE STUDIES | Proteolytic digestion; reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAT->AAT at codon 21 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a family from the Ivory Coast and in a Japanese family | ||
OTHER INFORMATION | Quantity in the heterozygote ~44% |
REFERENCES | |||
1. | Boissel, J.P., Wajcman, H., Fabritius, H., Cabannes, R., and Labie, D.: Biochim. Biophys. Acta, 670:203, 1981. | ||
2. | Ohba, Y., Hattori, Y., Ami, M., Yagami, H., Miyaji, T., and Tani, Y.: Hemoglobin, 14:109, 1990. |