Hb Fuchu-I | alpha72(EF1)His->Tyr |
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CONTACT | External; no contact with heme or other chain | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X focuses ahead of Hb A by IEF | ||
CHROMATOGRAPHY | Hb X and Hb A separate by anion exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX chain; separation of peptides by HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CAC->TAC at codon 72; alpha2 or alpha1 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 27-year-old Japanese female | ||
OTHER INFORMATION | Quantity in the heterozygote ~22% |
REFERENCES | |||
1. | Harano, T., Harano, K., Uehara, S., and Matsushita, K.: Hemoglobin, 19:389, 1995. |