|
|
|
|
CONTACT | |
Heme contact | |
HEMATOLOGY | |
Mild anemia in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X migrates slightly faster than Hb S | |
CHROMATOGRAPHY | |
Hb X was isolated on a DEAE-Sephadex column; Hb X separates from Hb A and Hb A2 on a cation exchange HPLC column; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaX, betaA, alpha) | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by reversed phase HPLC or by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
A CTG->CGG mutation at codon 91 (Ref. 3) | |
FUNCTION STUDIES | |
Decreased oxygen affinity; normal Bohr effect | |
STABILITY | |
Mildly unstable | |
OCCURRENCE | |
Found in a few families living in Jamaica and Canada | |
OTHER INFORMATION | |
Quantity in the heterozygote 39-44%; found in association with Hb S; the S-Caribbean compound heterozygosity is not associated with serious clinical manifestations | |
|
|
|
|
REFERENCES |
1. | |
Ahern, E., Ahern, V., Hilton, T., Serjeant, G.R., Serjeant, B.E., Seakins, M., Lang, A., Middleton, A., and Lehmann, H.; FEBS Lett., 69:99, 1976. | |
2. | |
Ali, M.A.M., Pinkerton, P., Chow, S.W.S., Zaetz, S.D., Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 12:137, 1988. | |
3. | |
Waye, J.S., Patterson, M., Eng, B., Chui, D.H.K., Sher, G.D., and Olivieri, N.F.: Am. J. Hematol., 47:33, 1994. | |