Hb Hazebrouck | beta38(C4)Thr->Pro |
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CONTACT | Heme contact | ||
HEMATOLOGY | Hemolytic anemia with reticulocytosis; Heinz bodies | ||
ELECTROPHORESIS | Not detectable with standard methodology; Hb X moves slightly slower than Hb A by IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; fingerprinting and reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation ACC->CCC at codon 38 | ||
FUNCTION STUDIES | Decreased oxygen affinity | ||
STABILITY | Mildly unstable | ||
OCCURRENCE | Observed in a French male | ||
OTHER INFORMATION | Quantity in the heterozygote estimated at 31%; hemichrome formation |
REFERENCES | |||
1. | Blouquit, Y., Delanoe-Garin, J., Lacombe, C., Arous, N., Cayre, Y., Peduzzi, J., Braconnier, F., and Galacteros, F.: FEBS Lett., 172, 155, 1984. |