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ALSO KNOWN AS | |
J-Birmingham | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves to the position of Hb J at alkaline pH; excellent separation by IEF | |
CHROMATOGRAPHY | |
Hb X and Hb A separate in cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; reversed phase HPLC; amino acid analysis; sequencing | |
DNA ANALYSES | |
A GCG->GAG mutation has been found in codon 120 of both the alpha2 and alpha1 genes (Ref. 5) | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Stable | |
OCCURRENCE | |
Found in an Indian family and in families from Japan and Turkey | |
OTHER INFORMATION | |
Quantity for alpha2 heterozygotes was 23%, and 19.7% for an alpha1 heterozygote (Ref. 5) | |
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REFERENCES |
1. | |
Blackwell, R.Q., Wong, H.B., Wang, C-L., Weng, M-I., and Liu, C-S.: Biochim. Biophys. Acta, 351:7, 1974. | |
2. | |
Kamuzora, H., Lehmann, H., Griffiths, K.D., Mann, J.R., and Raine, D.N.: Ann. Clin. Biochem., 11:53, 1974. | |
3. | |
Harano, T., Harano, K., Imai, K., Yunoki, H., Yagi, H., Nagashima, K., and Kuroume, T.: Hemoglobin, 13:169, 1989. | |
4. | |
Yalçin, A., Avcu, F., Beyan, C., Gürgey, A., and Ural, A.U.: Hemoglobin, 18:433, 1994. | |
5. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |