Hb C-Ziquinchor | beta6(A3)Glu->Val; |
---|---|
beta58(E2)Pro->Arg |
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves slightly slower than Hb A2 at alkaline pH; the same is observed in IEF | ||
CHROMATOGRAPHY | Hb X and Hb A can be separated by DEAE-cellulose or DEAE-Sephadex chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutations GAG->GTG and CCT->CGT at codons 6 and 58 | ||
FUNCTION STUDIES | Normal; gelling properties of Hb X are also the same as Hb S | ||
STABILITY | Tends to become autooxidized | ||
OCCURRENCE | Found in members of an African family living in Senegal | ||
OTHER INFORMATION | Quantity in the heterozygote 29-43%; the presence of an alpha-thal allele was not evaluated; the beta58 Pro->Arg mutation is also found in Hb Dhofar |
REFERENCES | |||
1. | Goossens, M., Garel, M.C., Auvinet, J., Basset, P., Ferreira Gomes, P., Rosa, J., and Arous, N.; FEBS Lett., 58:149, 1975. | ||
2. | Hassan, W., Basset, P., Oudart, J.L., Goossens, M., and Rosa, J.: Hemoglobin, 1:487, 1977. |