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CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X moves close to Hb A2 | |
CHROMATOGRAPHY | |
Hb X elutes behind Hb A2 from a cation exchange HPLC column | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation GAG->AAG at codon 90 | |
FUNCTION STUDIES | |
Slightly reduced oxygen affinity; normal Bohr effect and cooperativity | |
STABILITY | |
Slightly reduced | |
OCCURRENCE | |
Found in a Japanese family, a Black American family, and a Hungarian family | |
OTHER INFORMATION | |
Quantity in the heterozygote 36.5-40.5%; occurred in association with a betao-thal | |
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REFERENCES |
1. | |
Miyaji, T., Suzuki, H., Ohba, Y., and Shibata, S.: Clin. Chim. Acta, 14:624, 1966. | |
2. | |
Imai, K., Morimoto, H., Kotani, M., Shibata, S., Miyaji, T., and Matsutomo, K.: Biochim. Biophys. Acta, 200:197, 1970. | |
3. | |
Castro, O., Winter, W.P., Doan, R.J., Lee, C.K., and Rucknagel, D.L.: Clin. Res., 24:630A, 1976. | |
4. | |
Corso, D., Cognata, B., Ciaccio, C., Piazza, T., Dibenedetto, S.P., Samperi, P., Russo Mancuso, G., and Schiliro, G.: Hemoglobin, 14:549, 1990. | |