Hb N-Timone | beta8(A5)Lys->Glu |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X has a lower pI than Hb N-Baltimore on IEF; Hb X and Hb A separate at alkaline pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; fingerprinting on a reversed phase column; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAG->GAG at codon 8 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Discovered in a French-Italian family | ||
OTHER INFORMATION | Quantity in the heterozygote not reported |
REFERENCES | |||
1. | Lena-Russo, D., Orsini, A., Vovan, L., Bardakdjian-Michau, J., Lacombe, C., Blouquit, Y., Craescu, C.T., and Galacteros, F.: Hemoglobin, 13:743, 1989. |