| Hb Moabit | alpha86(F7)Leu->Arg |
|---|
| CONTACT | Heme contact | ||
| HEMATOLOGY | Mild hemolytic anemia in the heterozygote; reticulocytosis | ||
| ELECTROPHORESIS | Hb X moves slightly faster than Hb S on starch block at alkaline pH | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
| DNA ANALYSES | Not reported; presumed mutation CTG->CGG; alpha2 or alpha1 | ||
| FUNCTIONAL STUDIES | Decreased oxygen affinity | ||
| STABILITY | Unstable; the Leu->Arg replacement occurs next to the heme binding proximal histidine, greatly affecting the stability of the protein | ||
| OCCURRENCE | Found in a Turkish male | ||
| OTHER INFORMATION | Quantity in the heterozygote was estimated at about ~15% |
| REFERENCES | |||
| 1. | Knuth, A., Pribilla, W., Marti, H.R., and Winterhalter, K.H.: Acta Haematol., 61: 121, 1979. | ||