| 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. | ||