Hb Rancho Mirage | beta143(H21)His->Asp |
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CONTACT | External; central cavity; 2,3-DPG binding site | ||
HEMATOLOGY | Mild anemia in the heterozygote (PCV 0.30 l/l) | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A; Hb X moves like Hb F at acidic pH | ||
CHROMATOGRAPHY | No data presented; the betaX and betaA chains can be separated by CM-cellulose chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CAC->GAC at codon 143 | ||
FUNCTION STUDIES | Increased oxygen affinity; normal in the presence of 2,3-DPG; decreased cooperativity; decreased alkaline Bohr effect | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 17-year-old male | ||
OTHER INFORMATION | Quantity in the heterozygote ~53% |
REFERENCES | |||
1. | Moo-Penn, W.F., Hine, T.K., Johnson, M.H., Jue, D.L., Holland, S., George, S., Pierce, A.M., Michalski, L.A., and McDonald, M.J.: Hemoglobin, 16:35, 1992. |