Hb Titusville | alpha94(G1)Asp->Asn |
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CONTACT | alpha1beta2 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X does not separates from Hb A on paper at alkaline pH but moves as Hb S on starch gel and cellulose acetate at alkaline pH; Hb X separates from Hb A on citrate agar and acid pH | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAC->AAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity; decreased cooperativity; small Bohr effect | ||
STABILITY | About normal | ||
OCCURRENCE | Found in a Black female | ||
OTHER INFORMATION | Quantity in the heterozygote 35% (subject may have alpha-thal) |
REFERENCES | |||
1. | Schneider, R.G., Atkins, R.J., Hosty, T.S., Tomlin, G., Casey, R., Lehmann, H., Lorkin, P.A., and Nagai, K.: Biochim. Biophys. Acta, 400:365, 1975. |