Hb Mainz | beta98(FG5)Val->Glu |
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CONTACT | Internal; heme and alpha1beta2 contacts | ||
HEMATOLOGY | Severe hemolytic anemia | ||
ELECTROPHORESIS | Several slow moving bands observed at alkaline pH | ||
CHROMATOGRAPHY | Not reported; betaX and betaA appear to separate on a reversed phase HPLC column | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GTG->GAG at codon 98 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a 5-year-old German child; parents were not available for study | ||
OTHER INFORMATION | Hb X readily loses heme; the same is the case for Hb Nottingham |
REFERENCES | |||
1. | Wajcman, H., Behnken, L.J., Riou, J., and Galacteros, F.: Abstract 258, Br. J. Haematol., 87:66 (Suppl. 1), 1994. |