Hb Masuda | beta114(G16)Leu->Met; |
---|---|
beta119(GH2)Gly->Asp |
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A readily separate by IEF; Hb X focuses ahead of Hb A | ||
CHROMATOGRAPHY | Hb X elutes ahead of Hb A by cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutations CTG->ATG and GGC->GAC at codons 114 and 119 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Normal to mildly unstable | ||
OCCURRENCE | Found in a 46-year-old Japanese male | ||
OTHER INFORMATION | Quantity in the heterozygote estimated at ~40%; the beta114 Leu->Met mutation is characteristic for Hb Zengcheng and beta119 Gly->Asp for Hb Fannin-Lubbock |
REFERENCES | |||
1. | Ohba, Y., Ami, M., Imai, K., Komatsu, K., and Amatsu, K.: Hemoglobin, 13:753, 1989. |