Hb Cheverly | beta45(CD4)Phe->Ser |
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CONTACT | Heme contact | ||
HEMATOLOGY | Mild chronic hemolytic anemia with reticulocytosis; Heinz bodies | ||
ELECTROPHORESIS | No separation of Hb X and Hb A at alkaline and acidic pH | ||
CHROMATOGRAPHY | Not reported; the betaX and betaA chains will likely separate by reversed phase HPLC | ||
STRUCTURE STUDIES | Fingerprinting; HPLC; cation exchange chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation TTT->TCT at codon 45 | ||
FUNCTION STUDIES | Decreased oxygen affinity; reduced Bohr effect | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in an Italian male and a Caucasian family | ||
OTHER INFORMATION | Quantity in the heterozygote 24-40% |
REFERENCES | |||
1. | Sciarratta, G.V., Sansone, G., Valbonesi, M., Wilson, J.B., Lam, H., Webber, B.B., Headlee, M.E., and Huisman, T.H.J.: Hemoglobin, 6:419, 1982. | ||
2. | Yeager, A.M., Zinkham, W.H., Jue, D.L., Winslow, R.M., Johnson, M.H., McGuffey, J.E., and Moo-Penn, W.F.: Pediatr. Res., 17:503, 1983. |