Hb Villeparisis | beta77(EF1)His->Tyr; |
---|---|
beta80(EF4)Asn->Ser |
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves very close to Hb A at alkaline pH and has a lower pI than Hb A | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | The betaX and betaA chains separate by reversed phase HPLC; tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; mass spectrometry | ||
DNA ANALYSES | Not reported; presumed mutations CAC->TAC and AAC->AGC at codons 77 and 80 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a French male | ||
OTHER INFORMATION | The beta77 His->Tyr replacement is specific for Hb Fukuyama |
REFERENCES | |||
1. | Wajcman, H., Promé, D., Blouquit, Y., Riou, J., Préhu, C., Bardakdjian, J., and Galacteros, F.: Br. J. Haematol., 87:65 (Suppl. 1), 1994. |