| Hb Montefiore | alpha126(H9)Asp->Tyr |
|---|
| CONTACT | alpha1beta1 contact | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X migrates as Hb F at alkaline pH | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
| DNA ANALYSES | Not reported; presumed mutation GAC->TAC; alpha2 or alpha1 | ||
| FUNCTIONAL STUDIES | Increased oxygen affinity and lack of cooperativity | ||
| STABILITY | Not reported | ||
| OCCURRENCE | Found in a Puerto Rican female | ||
| OTHER INFORMATION | Quantity in the heterozygote ~23% |
| REFERENCES | |||
| 1. | Wajcman, H., Kister, J., Galacteros, F., Josifovska, O., Spielvogel, A., and Nagel, R.L.: Blood, 80:82a (Suppl. 1), 1992. | ||