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CONTACT | |
alpha1beta1 contact | |
HEMATOLOGY | |
Mild anemia in the heterozygote | |
ELECTROPHORESIS | |
No separation with standard techniques | |
CHROMATOGRAPHY | |
No separation by cation and anion exchange HPLC; betaX separates from betaA by CM-cellulose chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation CAG->GAG at codon 127 | |
FUNCTION STUDIES | |
Not reported | |
STABILITY | |
Mildly unstable | |
OCCURRENCE | |
Found in a few Spanish families | |
OTHER INFORMATION | |
The Gln->Glu replacement at beta127 was first thought to be the abnormality in a Turkish family (Ref. 1); this erroneous characterization was corrected in 1986; the Turkish abnormality was renamed Hb J-Antakya with a beta65(E9)Lys->Met replacement (Ref. 2) | |
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REFERENCES |
1. | |
Altay, Ç., Altinöz, N., Wilson, J.B., Bolch, K.C., and Huisman, T.H.J.: Biochim. Biophys. Acta, 434:1, 1976. | |
2. | |
Huisman, T.H.J., Wilson, J.B., Kutlar, A., Yang, K-G., Chen, S-S., Webber, B., Altay, Ç., and Villegas Martinez, A.: Biochim. Biophys. Acta, 871:229, 1986. | |
3. | |
Villegas, A., Espinos, D., Calero, F., and Huisman, T.H.J.: Sangre, 32:382, 1987. | |