Hb Khartoum | beta124(H2)Pro->Arg |
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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. |