Hb Gainesville-GA | beta46(CD5)Gly->Arg |
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CONTACT | External | ||
HEMATOLOGY | Observed in two healthy newborn babies; data from heterozygous parents not available | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH (it moves as Hb S) but not at acidic pH | ||
CHROMATOGRAPHY | Originally isolated by DEAE-cellulose chromatography; also excellent separations by cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GGG->AGG at codon 46 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a few Black newborns living in North Georgia | ||
OTHER INFORMATION | Quantity in the heterozygote 36-37% |
REFERENCES | |||
1. | Chen, S.S., Webber, B.B., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 9: 179, 1985. | ||
2. | Wilson, J.B., Webber, B.B., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 13: 623, 1989. |