Hb Roseau-Pointe a Pitre | beta90(F6)Glu->Gly |
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CONTACT | External | ||
HEMATOLOGY | About normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X takes the position of Hb D; excellent separation by IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAG->GGG at codon 90 | ||
FUNCTION STUDIES | Decreased oxygen affinity | ||
STABILITY | Slightly unstable | ||
OCCURRENCE | Found in a Dominican newborn and his mother | ||
OTHER INFORMATION | Occurred in association with a beta-thal; quantity in the heterozygote 36%; the mother may have an alpha-thal explaining a most modest anemia with microcytosis and hypochromia |
REFERENCES | |||
1. | Merault, G., Keclard, L., Saint-Martin, C., Jasmin, K., Campier, A., Delanoe-Garin, J., Arous, N., Fortune, R., Theodore, M., Seytor, S., Rosa, J., Blouquit, Y., and Galacteros, F.: FEBS Lett., 184:10, 1985. |