| Hb Ohio | beta142(H20)Ala->Asp |
|---|
| CONTACT | External; central cavity; 2,3-DPG pocket | ||
| HEMATOLOGY | Erythrocytosis in the heterozygote (PCV 0.54-0.58 l/l) | ||
| ELECTROPHORESIS | Hb X and Hb A can be separated at alkaline pH; Hb X moves faster than Hb A; Hb X moves between Hb A and Hb F at acidic pH | ||
| CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; sequencing | ||
| DNA ANALYSES | Not reported; presumed mutation GCC->GAC at codon 142 | ||
| FUNCTION STUDIES | Increased oxygen affinity; reduced Bohr effect and cooperativity | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in three members of a Caucasian family of Scottish-English ancestry | ||
| OTHER INFORMATION | Quantity in the heterozygote 47.7% |
| REFERENCES | |||
| 1. | Moo-Penn, W.F., Schneider, R.G., Shih, T-B., Jones, R.T., Govindarajan, S., Govindarajan, P.G., and Patchen, L.C.: Blood, 56:246, 1980. | ||