Hb Tunis | beta124(H2)Pro->Ser |
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CONTACT | External; alpha1beta1 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | No separation by conventional techniques; in IEF Hb X moves just ahead of Hb A | ||
CHROMATOGRAPHY | No separation reported; the betaX and betaA chains separate in reversed phase HPLC (elution order: betaA, betaX, alpha) | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of tryptic peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CCA->TCA at codon 124 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in members of a Tunisian family | ||
OTHER INFORMATION | Quantity in the heterozygote ~45% |
REFERENCES | |||
1. | Mrad, A., Blouquit, Y., Lacombe, C., Blibech, R., Arous, N., Bardakdjian, J., Kastally, R., Rosa, J., and Galacteros, F.: Hemoglobin, 12:23, 1988. |