Hb Fontainebleau | alpha21(B2)Ala->Pro |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | IEF reveals an abnormal band that migrates like Hb A1c | ||
CHROMATOGRAPHY | No separation of Hb X and Hb A by CM-cellulose chromatography and reversed phase HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GCT->CCT; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal | ||
STABILITY | Normal; the Ala->Pro replacement occurs at the second position of the B helix | ||
OCCURRENCE | Found in an Italian family | ||
OTHER INFORMATION | No definitive information about the quantity in the heterozygote; may be as high as 25-28% |
REFERENCES | |||
1. | Wajcman, H., Blouquit, Y., Gombaud-Saintonge, G., Riou, J., and Galacteros, F.: Hemoglobin, 13:421, 1989. |