Hb Potomac | beta101(G3)Glu->Asp |
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CONTACT | Internal; central cavity; alpha1beta2 contact | ||
HEMATOLOGY | Erythrocytosis in the heterozygote (PCV 0.55 l/l) | ||
ELECTROPHORESIS | No separation of Hb X and Hb A by standard procedures | ||
CHROMATOGRAPHY | No separation obtained on DEAE-Sephadex or Bio-Rex 70 chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of a mixture of betaX+betaA chains; separation of the peptides by cation exchange chromatography; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GAG->GAC or GAT at codon 101 | ||
FUNCTION STUDIES | Increased oxygen affinity; normal 2,3-DPG, Bohr and IHP effects | ||
STABILITY | Normal | ||
OCCURRENCE | Found in nine members of a Caucasian family and in an unrelated Caucasian female | ||
OTHER INFORMATION | Quantity in the heterozygote not provided |
REFERENCES | |||
1. | Charache, S., Jacobson, R., Brimhall, B., Murphy, E.A., Hathaway, P., Winslow, R., Jones, R., Rath, C., and Simkovich, J.: Blood, 51:331, 1978. | ||
2. | Rubin, R.N., Ballas, S.K., Burka, E.R., Adachi, K., Asakura, T., and Schwartz, E.: Hemoglobin, 2:447, 1978. |