| Hb Cheverly | beta45(CD4)Phe->Ser |
|---|
| 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. | ||