Hb Montefiore | alpha126(H9)Asp->Tyr |
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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. |