Hb La Desirade | beta129(H7)Ala->Val |
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CONTACT | Internal | ||
HEMATOLOGY | Probably normal in the heterozygote | ||
ELECTROPHORESIS | No separation of Hb X and Hb A by standard procedures; Hb X was slightly more anodal than Hb A on 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 GCC->GTC at codon 129 | ||
FUNCTION STUDIES | Decreased oxygen affinity | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in two unrelated Black families | ||
OTHER INFORMATION | Occurred in combination with betao-thal and with Hb C |
REFERENCES | |||
1. | Merault, G., Keclard, L., Garin, J., Poyart, C., Blouquit, Y., Arous, N., Galacteros, F., Feingold, J., and Rosa, J.; Hemoglobin, 10:593, 1986. |