Hb Connecticut | beta21(B3)Asp->Gly |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves like Hb S | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAT->GGT at codon 21 | ||
FUNCTION STUDIES | Decreased oxygen affinity; normal cooperativity and Bohr effect; slight decrease in the effect of allosteric effectors on the oxygen equilibrium properties of the variant | ||
STABILITY | Normal | ||
OCCURRENCE | Found in members of a family of Polish origin living in the United States | ||
OTHER INFORMATION | Quantity in the heterozygote 39-43% |
REFERENCES | |||
1. | Moo-Penn, W.F., McPhedran, P., Bobrow, S., Johnson, M.H., Jue, D.L., and Olsen, K.W.: Am. J. Hematol., 11:137, 1981. |