| Hb Khartoum | beta124(H2)Pro->Arg |
|---|
| CONTACT | External; alpha1beta1 contact | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves like Hb S | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Tryptic digestion of the AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis | ||
| DNA ANALYSES | Not reported; presumed mutation CCA->CGA at codon 124 | ||
| FUNCTION STUDIES | Not reported | ||
| STABILITY | Unstable | ||
| OCCURRENCE | Found in a male from Khartoum; family was not available for study | ||
| OTHER INFORMATION | Quantity in the heterozygote 30% |
| REFERENCES | |||
| 1. | Clegg, J.B., Weatherall, D.J., Wong, H.B., and Mustafa, D.: Nature, 22:379, 1969. | ||