Hb Redondo | beta92(F8)His->Asn->Asp |
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ALSO KNOWN AS | Isehara | ||
CONTACT | Heme contact; proximal histidine | ||
HEMATOLOGY | Chronic hemolytic anemia in the heterozygote; reticulocytosis | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH and by IEF; one band (X-Asn) was close to Hb A2, and the second (X-Asp) was between Hb A2 and Hb F | ||
CHROMATOGRAPHY | Two betaX chains separate from betaA by CM-cellulose chromatography and by reversed phase HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of the AE-betaX chain; separation of the peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | A CAC->AAC mutation at codon 92 | ||
FUNCTION STUDIES | Oxygen dissociation curves were performed on stripped lysate (pH 7.2) and showed a slight decrease of the P50 value and a decrease of n50 in relation to the biphasic shape of the curve | ||
STABILITY | Unstable | ||
OCCURRENCE | Found as a de novo mutation in a Portuguese male and a Japanese female and her daughter | ||
OTHER INFORMATION | No metHb formation; Hb X readily loses its heme group; quantity of the two compounds in the heterozygote not reported |
REFERENCES | |||
1. | Wajcman, H., Vasseur, C., Blouquit, Y., Esperito Santo, D., Peres, M.J., Martins, M.C., Poyart, C., and Galacteros, F.: Am. J. Hematol., 38:194, 1991. | ||
2. | Harano, T., Harano, K., Kushida, Y., Ueda, S., Yoshii, A., and Nishinarita, M.: Hemoglobin, 15:279, 1991. |