Hb Bab-Saadoum | beta48(CD7)Leu->Pro |
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CONTACT | External | ||
HEMATOLOGY | Mild anemia with reticulocytosis | ||
ELECTROPHORESIS | No separation with standard methodology; Hb X and Hb A focus closely together in IEF | ||
CHROMATOGRAPHY | Hb X and Hb A separate incompletely by cation exchange HPLC; the betaX and betaA chains readily separate by reversed phase HPLC; betaX elutes ahead of betaA | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CTG->CCG at codon 48 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Mildly unstable | ||
OCCURRENCE | Found in a Tunisian boy but not in his parents | ||
OTHER INFORMATION | Quantity in the heterozygote 25.8% (betaX as % of betaX+betaA) |
REFERENCES | |||
1. | Molchanova, T.P., Wilson, J.B., Gu, L-H., Guemira, F., Fattoum, S., and Huisman, T.H.J.: Hemoglobin, 16:267, 1992. |