Hb Mantes-La-Jolie | alpha79(EF8)Ala->Thr |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Variant was detected by IEF; it focuses very close to Hb A | ||
CHROMATOGRAPHY | No separation reported by cation exchange HPLC; the alphaX chain elutes ahead of alphaA by reversed phase HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of (AE) alphaA+alphaX chains; separation of peptides by HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GCC->ACC; alpha2 or alpha1 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in members of a family from Chad, North Central Africa | ||
OTHER INFORMATION | Quantity alphaX ~20% of total alpha |
REFERENCES | |||
1. | Wajcman, H., Blouquit, Y., Lahary, A., Soummer, A.M., Groff, P., Bardakdjian, J., Prehu, C., Riou, J., Godard, C., and Galacteros, F.: Hemoglobin, 19:281, 1995. |